W32C (p.Trp32Cys) variant of DICER1 (Endoribonuclease Dicer)
W32C (p.Trp32Cys) in DICER1 (Endoribonuclease Dicer) 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.
W32C (p.Trp32Cys) variant details
- p.Trp32Cys
- rs1894119538
- ClinGen CA390890485
- ClinVar RCV002376662
- Ensembl rs1894119538
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)