W76* (p.Trp76Ter) variant of FANCC (Fanconi anemia group C protein)
W76* (p.Trp76Ter) 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.
W76* (p.Trp76Ter) variant details
- p.Trp76Ter
- rs1189888124
- ClinGen CA374340038
- ClinVar RCV002035479
- ClinVar RCV002442941
- 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)