D1147E (p.Asp1147Glu) variant of SMARCA2 (P51531)
D1147E (p.Asp1147Glu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Nicolaides-Baraitser syndrome. The record also includes published literature and structural context.
D1147E (p.Asp1147Glu) variant details
- p.Asp1147Glu
- rs2537392050
- ClinGen CA372788284
- ClinVar RCV001270403
- Uncertain significance
- not provided; Nicolaides-Baraitser syndrome
- Missense
- ClinVar: Uncertain significance (not provided; Nicolaides-Baraitser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)