D1709C (p.Asp1709Cys) variant of DICER1 (Endoribonuclease Dicer)
D1709C (p.Asp1709Cys) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of DICER1-related tumor predisposition. The record also includes published literature and structural context.
D1709C (p.Asp1709Cys) variant details
- p.Asp1709Cys
- rs1890099387
- ClinGen CA1139663693
- ClinVar RCV001200975
- Ensembl rs1890099387
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- ClinVar: Pathogenic (DICER1-related tumor predisposition)
- EBI: Pathogenic (in GLOW)
- UniProt: Pathogenic (in GLOW)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)