S18N (p.Ser18Asn) variant of MSH6 (DNA mismatch repair protein Msh6)
S18N (p.Ser18Asn) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The record also includes structural context.
S18N (p.Ser18Asn) variant details
- p.Ser18Asn
- rs765459817
- ClinGen CA346734552
- ClinVar RCV003595100
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available