G1973D (p.Gly1973Asp) variant of NSD1 (Q96L73)
G1973D (p.Gly1973Asp) 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.
G1973D (p.Gly1973Asp) variant details
- p.Gly1973Asp
- cosmic curated COSV61781
- Ensembl rs587784166
- Likely pathogenic
- Sotos syndrome
- Missense
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available