ABO*B AND ABO blood group system
- Germline classification:
- Affects (1 submission)
- Last evaluated:
- May 17, 1990
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000019310.4
Alleles description
NM_020469.3(ABO):c.803G>C (p.Gly268Ala)
NM_020469.3(ABO):c.930G>A (p.Leu310=)
NM_020469.3(ABO):c.796C>A (p.Leu266Met)
NM_020469.3(ABO):c.657C>T (p.His219=)
NM_020469.3(ABO):c.526C>G (p.Arg176Gly)
NM_020469.3(ABO):c.297A>G (p.Thr99=)
NM_020469.3(ABO):c.703G>A (p.Gly235Ser)
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
-
Homo sapiens
Homo sapiensHomo sapiens VariationBioProject
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See more...Assertion and evidence details
Last Updated: Aug 26, 2023