H58D (p.His58Asp) variant of DICER1 (Endoribonuclease Dicer)
H58D (p.His58Asp) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
H58D (p.His58Asp) variant details
- p.His58Asp
- rs1555376409
- ClinGen CA390890075
- ClinVar RCV000552718
- ClinVar RCV002404572
- Uncertain significance
- Missense
- 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)