G1792R (p.Gly1792Arg) variant of NSD1 (Q96L73)
G1792R (p.Gly1792Arg) 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 published literature and structural context.
G1792R (p.Gly1792Arg) variant details
- p.Gly1792Arg
- rs2480730192
- ClinGen CA362306886
- ClinVar RCV003335951
- Likely pathogenic
- Sotos syndrome
- Missense
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic (in SOTOS)
- UniProt: Likely pathogenic (in SOTOS)
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)