Q48E (p.Gln48Glu) variant of DICER1 (Endoribonuclease Dicer)
Q48E (p.Gln48Glu) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
Q48E (p.Gln48Glu) variant details
- p.Gln48Glu
- rs1894113719
- ClinGen CA390890326
- cosmic curated COSV58618
- ClinVar RCV001200979
- Uncertain significance
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)