D56A (p.Asp56Ala) variant of FANCA (Fanconi anemia group A protein)
D56A (p.Asp56Ala) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The record also includes published literature and structural context.
D56A (p.Asp56Ala) variant details
- p.Asp56Ala
- rs2544389615
- ClinGen CA397483277
- ClinVar RCV003638066
- Uncertain significance
- Fanconi anemia
- Missense
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)