N65I (p.Asn65Ile) variant of DICER1 (Endoribonuclease Dicer)
N65I (p.Asn65Ile) 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. The record also includes published literature and structural context.
N65I (p.Asn65Ile) variant details
- p.Asn65Ile
- rs2140288694
- ClinGen CA390890020
- ClinVar RCV001986351
- Ensembl rs2140288694
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)