G30S (p.Gly30Ser) variant of ARID1B (Q8NFD5)
G30S (p.Gly30Ser) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of ARID1B-related BAFopathy; Coffin-Siris syndrome 1; not provided. The record also includes population frequency data and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- cosmic curated COSV10877
- ExAC rs777781316
- gnomAD rs777781316
- Likely pathogenic
- ARID1B-related BAFopathy; Coffin-Siris syndrome 1; not provided
- Missense
- ClinVar: Likely pathogenic (ARID1B-related BAFopathy; Coffin-Siris syndrome 1; not provided)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available