A1219P (p.Ala1219Pro) variant of SMARCA2 (P51531)
A1219P (p.Ala1219Pro) 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.
A1219P (p.Ala1219Pro) variant details
- p.Ala1219Pro
- rs2537404828
- ClinGen CA372789068
- ClinVar RCV003330159
- 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)