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Full data view for gene ABO

NOTE: for ABO allele designations see the Blood Group Antigen Gene Mutation Database
Information The variants shown are described using the NM_020469.2 transcript reference sequence.

543 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 7 c.? ABO-O? (O1-04) r.(?) p.? Unknown - benign g.? - - - ABO_000038 - PubMed: Ogasawara 2001 - - Germline - 2/1020 chromosomes - - - DNA SEQ - - blood group ABO 11398963-cons - - - - Japan - - - - - 2 Johan den Dunnen
?/. 1_7 c.? - r.(?) p.(?) Unknown - benign g.? - - - ABO_000038 - PubMed: Zhu 2008 - - Germline - 35/116 individuals - - - DNA SEQ - - blood group ABO 19054377-Inds - - - - China Han - - - - 35 Johan den Dunnen
?/. 1_7 c.? - r.(?) p.(?) Unknown - benign g.? - - - ABO_000038 - PubMed: Zhu 2008 - - Germline - 29/116 individuals - - - DNA SEQ - - blood group ABO 19054378-Inds - - - - China Han - - - - 29 Johan den Dunnen
?/. 1_7 c.? - r.(?) p.(?) Unknown - benign g.? - - - ABO_000038 - PubMed: Zhu 2008 - - Germline - 42/116 individuals - - - DNA SEQ - - blood group ABO 19054379-Inds - - - - China Han - - - - 42 Johan den Dunnen
?/. 1_7 c.? - r.(?) p.(?) Unknown - benign g.? - - - ABO_000038 - PubMed: Zhu 2008 - - Germline - 7/116 individuals - - - DNA SEQ - - blood group ABO 19054380-Inds - - - - China Han - - - - 7 Johan den Dunnen
+/. 1 c.1A>G ABO-Aw16 r.(?) p.0? Parent #1 - benign g.136150605T>C g.133275189T>C M1V - ABO_000088 linked variants PubMed: Hult 2010 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 1 c.2T>C - r.(?) p.0? Unknown - benign g.136150604A>G g.133275188A>G M1T - ABO_000080 - PubMed: Seltsam 2006 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
-?/-? 1i c.29-286C>A - r.(?) p.(=) Both (homozygous) - likely benign g.136137857G>T g.133262454= - - ABO_000098 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/-? 1i c.29-286C>A - r.(?) p.(=) Both (homozygous) - likely benign g.136137857G>T g.133262454= - - ABO_000098 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 7 c.46G>A - r.(?) p.(A16T) Unknown - benign g.136137554C>T g.133262151C>T - - ABO_000071 - PubMed: Hosseini-Maaf 2003 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.53G>T ABO-O50 (O2-4) r.(?) p.(Arg18Leu) Parent #1 - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants PubMed: Hosseini-Maaf 2005 - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4a - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 2 c.53G>T ABO-O50 (O2-4) r.(?) p.(Arg18Leu) Parent #1 - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants PubMed: Hosseini-Maaf 2005 - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4c - - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 2 c.53G>T ABO-O50 (O2-4) r.(?) p.(Arg18Leu) Parent #1 - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants PubMed: Hosseini-Maaf 2005 - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4b - - - - Denmark - - - - - 1 Johan den Dunnen
+/. 2 c.53G>T ABO-O49 (O2-3) r.(?) p.(Arg18Leu) Parent #1 - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants PubMed: Hosseini-Maaf 2005 - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3a - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 2 c.53G>T ABO-O49 (O2-3) r.(?) p.(Arg18Leu) Parent #1 - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants PubMed: Hosseini-Maaf 2005 - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3b - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 2 c.53G>T ABO-O48 (O2-2) r.(?) p.(Arg18Leu) Parent #1 - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants PubMed: Hosseini-Maaf 2005 - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2f father of father/son - - - Israel - - - - - 1 Johan den Dunnen
+/. 2 c.53G>T ABO-O48 (O2-2) r.(?) p.(Arg18Leu) Paternal (confirmed) - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants PubMed: Hosseini-Maaf 2005 - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2s son of father/son - - - Israel - - - - - 1 Johan den Dunnen
+/. 2 c.53G>T ABO-O03 (O2-1) r.(?) p.(Arg18Leu) Parent #1 - benign g.136137547C>A g.133262144C>A - - ABO_000024 found with O1 and O1v, linked variants PubMed: Hosseini-Maaf 2005 - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-1 32 individuals - - - - Europe" - - - - 32 Johan den Dunnen
+/. 2 c.53G>T ABO-O49 (O2-03) r.(?) p.(Arg18Leu) Unknown - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants PubMed: Ogasawara 2001 - rs55876802 Germline - 2/1020 chromosomes - - - DNA SEQ - - blood group ABO 11398963-cons - - - - Japan - - - - - 2 Johan den Dunnen
+/. 2 c.53G>T ABO-O03 (O2) r.(?) p.(Arg18Leu) Parent #1 - benign g.136137547C>A g.133262144C>A - - ABO_000024 linked variants - - rs55876802 Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.88dup ABO-O51 (O4) r.(?) p.(Val30Glyfs*27) Parent #1 - benign g.136137513dup g.133262110dup 88dupG - ABO_000020 - PubMed: Hosseini-Maaf 2005 - - Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4a father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.88dup ABO-O51 (O4) r.(?) p.(Val30Glyfs*27) Parent #1 - benign g.136137513dup g.133262110dup 88dupG - ABO_000020 - PubMed: Hosseini-Maaf 2005 - - Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4b father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.88dup ABO-O51 (O4) r.(?) p.(Val30Glyfs*27) Parent #1 - benign g.136137513dup g.133262110dup 88dupG - ABO_000020 - PubMed: Hosseini-Maaf 2005 - - Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4c father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.88dup ABO-O21 r.(?) p.(Val30Glyfs*27) Parent #1 - benign g.136137513dup g.133262110dup 88dupG - ABO_000020 linked variants PubMed: Seltsam 2003 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.106G>T ABO-O02 (O1v) r.106g>u p.Val36Phe Unknown - benign g.136136770C>A - - - ABO_000009 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamamoto 1990 - rs688976 Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO 02333095-Pat - - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.106G>T ABO-O02 (O1v) r.(?) p.(Val36Phe) Parent #2 - benign g.136136770C>A - - - ABO_000009 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs688976 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4a father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.106G>T ABO-O02 (O1v) r.(?) p.(Val36Phe) Parent #2 - benign g.136136770C>A - - - ABO_000009 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs688976 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4b - - - - Denmark - - - - - 1 Johan den Dunnen
+/. 3 c.106G>T ABO-O02 (O1v) r.(?) p.(Val36Phe) Parent #2 - benign g.136136770C>A - - - ABO_000009 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs688976 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3b - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 3 c.106G>T ABO-O02 (O1v) r.(?) p.(Val36Phe) Maternal (confirmed) - benign g.136136770C>A - - - ABO_000009 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs688976 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2s son of father/son - - - Israel - - - - - 1 Johan den Dunnen
+/. 3i c.155+5G>A ABO-B3-03 r.99_155del p.Tyr34_Cys52del Parent #1 - benign g.136136716C>T g.133261313C>T IVS3+5G>A - ABO_000065 linked variants PubMed: Yu 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.188G>A - r.(?) p.(Arg63His) Unknown - benign g.136135238C>T - - - ABO_000070 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2003 - rs549446 Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.188_189delinsAT ABO-O02 (O1v) r.188_189delinsat p.Arg63His Unknown - benign g.136135237_136135238= g.133259833_133259834delinsAT - - ABO_000010 linked variants PubMed: Yamamoto 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO 02333095-Pat - - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.188_189delinsAT ABO-O02 (O1v) r.(?) p.(Arg63His) Parent #2 - benign g.136135237_136135238= g.133259833_133259834delinsAT - - ABO_000010 linked variants PubMed: Hosseini-Maaf 2005 - - Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4a father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.188_189delinsAT ABO-O02 (O1v) r.(?) p.(Arg63His) Parent #2 - benign g.136135237_136135238= g.133259833_133259834delinsAT - - ABO_000010 linked variants PubMed: Hosseini-Maaf 2005 - - Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4b - - - - Denmark - - - - - 1 Johan den Dunnen
+/. 4 c.188_189delinsAT ABO-O02 (O1v) r.(?) p.(Arg63His) Parent #2 - benign g.136135237_136135238= g.133259833_133259834delinsAT - - ABO_000010 linked variants PubMed: Hosseini-Maaf 2005 - - Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3b - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 4 c.188_189delinsAT ABO-O02 (O1v) r.(?) p.(Arg63His) Maternal (confirmed) - benign g.136135237_136135238= g.133259833_133259834delinsAT - - ABO_000010 linked variants PubMed: Hosseini-Maaf 2005 - - Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2s son of father/son - - - Israel - - - - - 1 Johan den Dunnen
+/. 4 c.190G>A ABO-A2-12 r.(?) p.(Val64Ile) Parent #1 - benign g.136135236C>T g.133259832C>T - - ABO_000097 linked variants PubMed: Hult 2010 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.203G>C - r.(spl?) p.(Arg68Thr) Unknown - benign g.136135223C>G g.133259819C>G - - ABO_000054 - PubMed: Olsson 2001 - rs55958637 Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/. 4i c.203+1del ABO-Abantu-01 r.0 p.0? Parent #1 - benign g.136135223del g.133259819del 203+1delG - ABO_000075 linked variants; no mRNA detectable PubMed: Hosseini-Maaf 2005 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - South Africa Bantu - - - - 1 Johan den Dunnen
+/. 4i c.203+1del ABO-Abantu-01 r.0 p.0? Parent #1 - benign g.136135223del g.133259819del 203+1delG - ABO_000075 linked variants; 2 homozygotes,5 heterozygotes PubMed: Hosseini-Maaf 2005 - - Germline - 9/14 chromosomes - - - DNA SEQ - - blood group ABO - - - - - South Africa Bantu - - - - 9 Johan den Dunnen
+/. 4i c.203+1del ABO-O01bantu r.0 p.0? Parent #1 - benign g.136135223del g.133259819del 203+1delG - ABO_000075 linked variants; 1 homozygote,5 heterozygote in 64 cases PubMed: Hosseini-Maaf 2005 - - Germline - 7/128 chromosomes - - - DNA SEQ - - blood group ABO - - - - - South Africa black - - - - 7 Johan den Dunnen
+/. 5 c.220C>T ABO-O02 (O1v) r.220c>u p.Pro74Ser Unknown - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamamoto 1990 - rs512770 Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO 02333095-Pat - - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O02 (O1v) r.(?) p.(Pro74Ser) Parent #2 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4a father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O50 (O2-4) r.(?) p.(Pro74Ser) Parent #1 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4a - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O50 (O2-4) r.(?) p.(Pro74Ser) Parent #1 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4c - - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O50 (O2-4) r.(?) p.(Pro74Ser) Parent #1 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4b - - - - Denmark - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O02 (O1v) r.(?) p.(Pro74Ser) Parent #2 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4b - - - - Denmark - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O49 (O2-3) r.(?) p.(Pro74Ser) Parent #1 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3a - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O49 (O2-3) r.(?) p.(Pro74Ser) Parent #1 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3b - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O02 (O1v) r.(?) p.(Pro74Ser) Parent #2 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3b - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O48 (O2-2) r.(?) p.(Pro74Ser) Parent #1 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2f father of father/son - - - Israel - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O48 (O2-2) r.(?) p.(Pro74Ser) Paternal (confirmed) - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2s son of father/son - - - Israel - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O03 (O2-1) r.(?) p.(Pro74Ser) Parent #1 - benign g.136133506G>A - - - ABO_000011 found with O1 and O1v, linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-1 32 individuals - - - - Europe" - - - - 32 Johan den Dunnen
+/. 5 c.220C>T ABO-O49 (O2-03) r.(?) p.(Pro74Ser) Unknown - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Ogasawara 2001 - rs512770 Germline - 2/1020 chromosomes - - - DNA SEQ - - blood group ABO 11398963-cons - - - - Japan - - - - - 2 Johan den Dunnen
+/. 5 c.220C>T ABO-O03 (O2) r.(?) p.Pro74Ser Parent #1 - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - rs512770 Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.220C>T ABO-O02 (O1v) r.(?) p.(Pro74Ser) Maternal (confirmed) - benign g.136133506G>A - - - ABO_000011 linked variants Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Hosseini-Maaf 2005 - rs512770 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2s son of father/son - - - Israel - - - - - 1 Johan den Dunnen
+/. 5 c.236C>T ABO-Aw17 r.(?) p.(Pro79Leu) Parent #1 - benign g.136133490G>A g.133258100G>A - - ABO_000089 linked variants PubMed: Hult 2010 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - Denmark;Sweden - - - - - 4 Johan den Dunnen
+/. 5 c.236C>T ABO-Aw17 r.(?) p.(Pro79Leu) Parent #1 - benign g.136133490G>A g.133258100G>A - - ABO_000089 linked variants PubMed: Hult 2010 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - - Africa (North) - - - - 1 Johan den Dunnen
+/. 5 c.236C>T ABO-Aw17 r.(?) p.(Pro79Leu) Parent #1 - benign g.136133490G>A g.133258100G>A - - ABO_000089 linked variants PubMed: Hult 2010 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - Angola - - - - - 1 Johan den Dunnen
+/. 6 c.247G>T ABO-B3-04 r.(?) p.(Asp83Tyr) Parent #1 - benign g.136132922C>A g.133257535C>A - - ABO_000064 linked variants PubMed: Yu 2002 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/+ 6 c.261del ABO*O r.261del p.Thr88Profs*31 Parent #1 - benign (!) g.136132908_136132909= g.133257521_133257522= 258delG - ABO_000001 reference haplotype ABO*A (bloodgroup A); NOTE reference genome is blood group O (lacks this nucleotide), reference transcript is blood group A (has this nucleotide) Reference Haplotype; OMIM:var0001 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/. 6 c.261del - r.261del p.Thr88Profs*31 Paternal (inferred) - benign (recessive) g.136132908_136132909= g.133257521_133257522= 258delG - ABO_000001 - PubMed: Yamamoto 1990 - rs8176719 Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO 02333095-Pat - - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.261del - r.261del p.Thr88Profs*31 Maternal (inferred) - benign (recessive) g.136132908_136132909= g.133257521_133257522= 258delG - ABO_000001 - PubMed: Yamamoto 1990 - rs8176719 Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO 02333095-Pat - - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O1v) r.261del p.Thr88Profs*31 Unknown - benign (recessive) g.136132908_136132909= g.133257521_133257522= 258delG - ABO_000001 linked variants PubMed: Yamamoto 1990 - rs8176719 Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO 02333095-Pat - - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 27/456 heterozygotes (0 homozygotes) PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - 27/456 cases - - - DNA SEQ - - blood group ABO 15647021-Pat - - - - Sweden - - - - - 27 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO6 - - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO5 father and daugther - - - Austria - - - - - 2 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O1v) r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4a father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4b father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O2-01) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 1996 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08641696-PatO201 - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO4c father and daugther - - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO3 - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4a - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4c - - - - Switzerland - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O1v) r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-4b - - - - Denmark - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3a - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O1v) r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-3b - - - - Sweden - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2f father of father/son - - - Israel - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O26 (Ovar.tlse02) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatOvar - - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O2-01) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 1996 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08839869-PatO201 - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O1v) r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Yamamoto 1993 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08484250-PatBA - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O1v r.(?) p.(Thr88Profs*31) Parent #2 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Yamamoto 1993 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08484250-PatAx - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01 r.(?) p.(Thr88Profs*31) Unknown - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Ogasawara 2001 - rs8176719 Germline - 286/1020 chromosomes - - - DNA SEQ - - blood group ABO 11398963-cons - - - - Japan - - - - - 286 Johan den Dunnen
+/. 6 c.261del ABO-O04 (O1-02) r.(?) p.(Thr88Profs*31) Unknown - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 2001 - rs8176719 Germline - 11/1020 chromosomes - - - DNA SEQ - - blood group ABO 11398963-cons - - - - Japan - - - - - 11 Johan den Dunnen
+/. 6 c.261del ABO-O05 (O1-03) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 2001 - rs8176719 Germline - 3/1020 chromosomes - - - DNA SEQ - - blood group ABO 11398963-cons - - - - Japan - - - - - 3 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O2-01) r.(?) p.(Thr88Profs*31) Unknown - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 2001 - rs8176719 Germline - 246/1020 chromosomes - - - DNA SEQ - - blood group ABO 11398963-cons - - - - Japan - - - - - 246 Johan den Dunnen
+/. 6 c.261del ABO-O06 (O2-02) r.(?) p.(Thr88Profs*31) Unknown - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 2001 - rs8176719 Germline - 7/1020 chromosomes - - - DNA SEQ - - blood group ABO 11398963-cons - - - - Japan - - - - - 7 Johan den Dunnen
+/. 6 c.261del ABO-O01 (O1-01) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 - PubMed: Ogasawara 1996 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08641696-PatO101 - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O04 (O1-02) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 1996 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08641696-PatO102 - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O05 (O1-03) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 1996 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08641696-PatO103 - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O06 (O2-02) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 1996 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08641696-PatO202 - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O07 (O2-03) r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Ogasawara 1996 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 08641696-PatO203 - - - - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O21 r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Seltsam 2003 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.261del ABO-O01bantu r.(?) p.(Thr88Profs*31) Parent #1 - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO - - - - - South Africa black - - - - 7 Johan den Dunnen
+/. 6 c.261del ABO-O02 (O1v) r.(?) p.(Thr88Profs*31) Maternal (confirmed) - benign (recessive) g.136132908_136132909= g.133257521_133257522= 261delG - ABO_000001 linked variants PubMed: Hosseini-Maaf 2005 - rs8176719 Germline - - - - - DNA SEQ - - blood group ABO 15647021-PatO2-2s son of father/son - - - Israel - - - - - 1 Johan den Dunnen
-/- 6 c.261G= ABO*A r.261g= p.Thr88= Both (homozygous) - benign (!) g.136132908_136132909insC g.133257521_133257522insC - - ABO_000000 reference haplotype ABO*A (bloodgroup A); NOTE reference genome is blood group O (lacks this nucleotide), reference transcript is blood group A (has this nucleotide) Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. Reference Haplotype; OMIM:var0001 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO - - reference haplotype F;M - - - - - - - 1 Johan den Dunnen
+/. 6 c.278C>T - r.(?) p.(Pro93Leu) Unknown - benign g.136132892G>A g.133257505G>A - - ABO_000082 - PubMed: Xu 2006 - - Germline - - - - - DNA SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
-/- 6 c.297A>G ABO*B r.297a>g p.Thr99= Parent #1 - benign g.136132873T>C g.133257486T>C 294A>G - ABO_000002 reference haplotype ABO*B Reference Haplotype; OMIM:var0002 - rs8176720 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. 6 c.297A>G ABO-B1-01 r.297a>g p.= Unknown - benign g.136132873T>C g.133257486T>C 294A>G - ABO_000002 linked variants PubMed: Yamamoto 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO - - - - - - - - - - - 1 Johan den Dunnen
-/. 6 c.297A>G ABO-O02 (O1v) r.297a>g p.= Unknown - benign g.136132873T>C g.133257486T>C 294A>G - ABO_000002 linked variants PubMed: Yamamoto 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - blood group ABO 02333095-Pat - - - - - - - - - - 1 Johan den Dunnen
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NOTE: for ABO allele designations see the Blood Group Antigen Gene Mutation Database


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