H58R (p.His58Arg) variant of DICER1 (Endoribonuclease Dicer)
H58R (p.His58Arg) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; DICER1-related tumor predisposition; Hereditary cancer-predisposin. The record also includes published literature and structural context.
H58R (p.His58Arg) variant details
- p.His58Arg
- rs1595466613
- ClinGen CA390890072
- cosmic curated COSV58619
- ClinVar RCV001012935
- Uncertain significance
- not provided; DICER1-related tumor predisposition; Hereditary cancer-predisposin
- Missense
- ClinVar: Uncertain significance (not provided; DICER1-related tumor predisposition; Hereditary ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)