Q869E (p.Gln869Glu) variant of FANCA (Fanconi anemia group A protein)
Q869E (p.Gln869Glu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia. The record also includes published literature and structural context.
Q869E (p.Gln869Glu) variant details
- p.Gln869Glu
- rs1286812517
- ClinGen CA397438939
- ClinVar RCV002584081
- NCI-TCGA Cosmic COSV5979
- Likely pathogenic
- Fanconi anemia
- Missense
- ClinVar: Likely pathogenic (Fanconi anemia)
- EBI: Likely pathogenic (in FANCA)
- UniProt: Likely pathogenic (in FANCA)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)