T18S (p.Thr18Ser) variant of DICER1 (Endoribonuclease Dicer)
T18S (p.Thr18Ser) 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.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- rs2140296215
- ClinGen CA390890667
- ClinVar RCV003589437
- 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)