D56Y (p.Asp56Tyr) variant of FANCC (Fanconi anemia group C protein)
D56Y (p.Asp56Tyr) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
D56Y (p.Asp56Tyr) variant details
- p.Asp56Tyr
- rs2542844552
- ClinGen CA374340169
- ClinVar RCV003181995
- ClinVar RCV003523149
- Uncertain significance
- Fanconi anemia; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Fanconi anemia; Hereditary cancer-predisposing syndrome)
- 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)