R1952G (p.Arg1952Gly) variant of NSD1 (Q96L73)
R1952G (p.Arg1952Gly) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sotos syndrome. The record also includes structural context.
R1952G (p.Arg1952Gly) variant details
- p.Arg1952Gly
- Ensembl rs886041219
- Likely pathogenic
- Sotos syndrome
- Missense
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available