L71* (p.Leu71Ter) variant of FANCC (Fanconi anemia group C protein)
L71* (p.Leu71Ter) 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.
L71* (p.Leu71Ter) variant details
- p.Leu71Ter
- rs2542843255
- ClinGen CA374340073
- ClinVar RCV003301938
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)