G1098S (p.Gly1098Ser) variant of SMARCA2 (P51531)
G1098S (p.Gly1098Ser) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nicolaides-Baraitser syndrome. The record also includes published literature and structural context.
G1098S (p.Gly1098Ser) variant details
- p.Gly1098Ser
- rs2537379834
- ClinGen CA372787524
- ClinVar RCV002471832
- Pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- ClinVar: Pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)