K47* (p.Lys47Ter) variant of FANCC (Fanconi anemia group C protein)
K47* (p.Lys47Ter) in FANCC (Fanconi anemia group C protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K47* (p.Lys47Ter) variant details
- p.Lys47Ter
- rs1831172189
- ClinGen CA374340247
- ClinVar RCV001063564
- Ensembl rs1831172189
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)