C75* (p.Cys75Ter) variant of FANCC (Fanconi anemia group C protein)
C75* (p.Cys75Ter) in FANCC (Fanconi anemia group C protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C75* (p.Cys75Ter) variant details
- p.Cys75Ter
- rs2542842989
- ClinGen CA374340044
- ClinVar RCV002306898
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely 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)