D39N (p.Asp39Asn) variant of DICER1 (Endoribonuclease Dicer)
D39N (p.Asp39Asn) 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.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- rs1595468657
- ClinGen CA390890438
- cosmic curated COSV58622
- ClinVar RCV001010025
- 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)