Y42F (p.Tyr42Phe) variant of DICER1 (Endoribonuclease Dicer)
Y42F (p.Tyr42Phe) 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; not provided. The record also includes published literature and structural context.
Y42F (p.Tyr42Phe) variant details
- p.Tyr42Phe
- rs2543387801
- ClinGen CA390890410
- ClinVar RCV003229376
- ClinVar RCV005824512
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)