T34P (p.Thr34Pro) variant of FANCC (Fanconi anemia group C protein)
T34P (p.Thr34Pro) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
T34P (p.Thr34Pro) variant details
- p.Thr34Pro
- rs2542861248
- ClinGen CA374340332
- ClinVar RCV002439518
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)