S5* (p.Ser5Ter) variant of FANCC (Fanconi anemia group C protein)
S5* (p.Ser5Ter) 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 structural context.
S5* (p.Ser5Ter) variant details
- p.Ser5Ter
- cosmic curated COSV10000
- Ensembl rs1831182314
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available