S9N (p.Ser9Asn) variant of FANCC (Fanconi anemia group C protein)
S9N (p.Ser9Asn) 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 Hereditary cancer-predisposing syndrome; Fanconi anemia. The record also includes published literature and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs2542863610
- ClinGen CA2580080713
- ClinVar RCV003164896
- ClinVar RCV006473752
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; 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)