C2121Y (p.Cys2121Tyr) variant of NSD1 (Q96L73)
C2121Y (p.Cys2121Tyr) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Sotos syndrome. The record also includes structural context.
C2121Y (p.Cys2121Tyr) variant details
- p.Cys2121Tyr
- Ensembl rs2127276280
- Likely pathogenic
- Sotos syndrome
- Missense
- ClinVar: Likely pathogenic (Sotos syndrome)
- UniProt: Likely pathogenic
- Structural context available