T989R (p.Thr989Arg) variant of SMARCA2 (P51531)
T989R (p.Thr989Arg) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nicolaides-Baraitser syndrome. The record also includes published literature and structural context.
T989R (p.Thr989Arg) variant details
- p.Thr989Arg
- rs2537363604
- ClinGen CA372786035
- ClinVar RCV002471840
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)