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ABO*B AND ABO blood group system

Germline classification:
Affects (1 submission)
Last evaluated:
May 17, 1990
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000019310.4

Alleles description

NM_020469.3(ABO):c.803G>C (p.Gly268Ala)

Gene:
ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_020469.3(ABO):c.803G>C (p.Gly268Ala)
Other names:
ABO*B
HGVS:
  • NC_000009.12:g.133255928C>G
  • NG_006669.2:g.24288G>C
  • NM_020469.3:c.803G>C
  • NP_065202.2:p.Gly268Ala
  • LRG_792t1:c.803G>C
  • LRG_792:g.24288G>C
  • LRG_792p1:p.Gly268Ala
  • NC_000009.11:g.136131315C>G
Protein change:
G268A; GLY268ALA
Links:
LOVD 3: ABO_000007; OMIM: 110300.0002; OMIM: 110300.0004; dbSNP: rs8176747
NCBI 1000 Genomes Browser:
rs8176747
Molecular consequence:
  • NM_020469.3:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]

NM_020469.3(ABO):c.930G>A (p.Leu310=)

Gene:
ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_020469.3(ABO):c.930G>A (p.Leu310=)
Other names:
ABO*B
HGVS:
  • NC_000009.12:g.133255801C>T
  • NG_006669.2:g.24415G>A
  • NG_117976.1:g.485C>T
  • NM_020469.3:c.930G>A
  • NP_065202.2:p.Leu310=
  • LRG_792t1:c.930G>A
  • LRG_792:g.24415G>A
  • LRG_792p1:p.Leu310=
  • NC_000009.11:g.136131188C>T
Links:
LOVD 3: ABO_000008; OMIM: 110300.0002; dbSNP: rs8176749
NCBI 1000 Genomes Browser:
rs8176749
Molecular consequence:
  • NM_020469.3:c.930G>A - synonymous variant - [Sequence Ontology: SO:0001819]

NM_020469.3(ABO):c.796C>A (p.Leu266Met)

Gene:
ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_020469.3(ABO):c.796C>A (p.Leu266Met)
Other names:
ABO*B
HGVS:
  • NC_000009.12:g.133255935G>T
  • NG_006669.2:g.24281C>A
  • NM_020469.3:c.796C>A
  • NP_065202.2:p.Leu266Met
  • LRG_792t1:c.796C>A
  • LRG_792:g.24281C>A
  • LRG_792p1:p.Leu266Met
  • NC_000009.11:g.136131322G>T
  • NM_020469.2:c.796C>A
Protein change:
L266M
Links:
LOVD 3: ABO_000006; OMIM: 110300.0002; dbSNP: rs8176746
NCBI 1000 Genomes Browser:
rs8176746
Molecular consequence:
  • NM_020469.3:c.796C>A - missense variant - [Sequence Ontology: SO:0001583]

NM_020469.3(ABO):c.657C>T (p.His219=)

Gene:
ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_020469.3(ABO):c.657C>T (p.His219=)
Other names:
ABO*B
HGVS:
  • NC_000009.12:g.133256074G>A
  • NG_006669.2:g.24142C>T
  • NM_020469.3:c.657C>T
  • NP_065202.2:p.His219=
  • LRG_792t1:c.657C>T
  • LRG_792:g.24142C>T
  • LRG_792p1:p.His219=
  • NC_000009.11:g.136131461G>A
Links:
LOVD 3: ABO_000004; OMIM: 110300.0002; dbSNP: rs8176741
NCBI 1000 Genomes Browser:
rs8176741
Molecular consequence:
  • NM_020469.3:c.657C>T - synonymous variant - [Sequence Ontology: SO:0001819]

NM_020469.3(ABO):c.526C>G (p.Arg176Gly)

Gene:
ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_020469.3(ABO):c.526C>G (p.Arg176Gly)
Other names:
ABO*B
HGVS:
  • NC_000009.12:g.133256205G>C
  • NG_006669.2:g.24011C>G
  • NM_020469.3:c.526C>G
  • NP_065202.2:p.Arg176Gly
  • LRG_792t1:c.526C>G
  • LRG_792:g.24011C>G
  • LRG_792p1:p.Arg176Gly
  • NC_000009.11:g.136131592G>C
Protein change:
R176G
Links:
LOVD 3: ABO_000003; OMIM: 110300.0002; dbSNP: rs7853989
NCBI 1000 Genomes Browser:
rs7853989
Molecular consequence:
  • NM_020469.3:c.526C>G - missense variant - [Sequence Ontology: SO:0001583]

NM_020469.3(ABO):c.297A>G (p.Thr99=)

Gene:
ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_020469.3(ABO):c.297A>G (p.Thr99=)
Other names:
ABO*B
HGVS:
  • NC_000009.12:g.133257486T>C
  • NG_006669.2:g.22730A>G
  • NM_020469.3:c.297A>G
  • NP_065202.2:p.Thr99=
  • LRG_792t1:c.297A>G
  • LRG_792:g.22730A>G
  • LRG_792p1:p.Thr99=
  • NC_000009.11:g.136132873T>C
Links:
LOVD 3: ABO_000002; OMIM: 110300.0002; dbSNP: rs8176720
NCBI 1000 Genomes Browser:
rs8176720
Molecular consequence:
  • NM_020469.3:c.297A>G - synonymous variant - [Sequence Ontology: SO:0001819]

NM_020469.3(ABO):c.703G>A (p.Gly235Ser)

Gene:
ABO:ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_020469.3(ABO):c.703G>A (p.Gly235Ser)
Other names:
ABO*B
HGVS:
  • NC_000009.12:g.133256028C>T
  • NG_006669.2:g.24188G>A
  • NM_020469.3:c.703G>A
  • NP_065202.2:p.Gly235Ser
  • LRG_792t1:c.703G>A
  • LRG_792:g.24188G>A
  • LRG_792p1:p.Gly235Ser
  • NC_000009.11:g.136131415C>T
Protein change:
G235S
Links:
LOVD 3: ABO_000005; OMIM: 110300.0002; dbSNP: rs8176743
NCBI 1000 Genomes Browser:
rs8176743
Molecular consequence:
  • NM_020469.3:c.703G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ABO blood group system
Synonyms:
ABO BLOOD GROUP SYSTEM, O PHENOTYPE; ABO BLOOD GROUP SYSTEM, A/B POLYMORPHISM; ABO BLOOD GROUP SYSTEM, A2 PHENOTYPE; See all synonyms [MedGen]
Identifiers:
MedGen: C0000778; OMIM: 616093; Human Phenotype Ontology: HP:0032224

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039599OMIM
no assertion criteria provided
Affects
(May 17, 1990) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular genetic basis of the histo-blood group ABO system.

Yamamoto F, Clausen H, White T, Marken J, Hakomori S.

Nature. 1990 May 17;345(6272):229-33.

PubMed [citation]
PMID:
2333095

Details of each submission

From OMIM, SCV000039599.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Whereas ABO blood groups (616093) A, B, and AB in individuals express glycosyltransferase activities that convert the H antigen into A or B antigen, O(H) persons lack such activities. Yamamoto et al. (1990) found 7 nucleotide differences between the alleles that code for the A and B glycosyltransferase enzymes; 4 of the nucleotide differences were accompanied by change in amino acid residue in the transferase. The A gene had A, C, C, G, C, G, and G as nucleotides 294, 523, 654, 700, 793, 800, and 927; the B gene was found to have G, G, T, A, A, C, and A at these positions.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2023