G1182A (p.Gly1182Ala) variant of ARID1B (Q8NFD5)
G1182A (p.Gly1182Ala) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Coffin-Siris syndrome 1.
G1182A (p.Gly1182Ala) variant details
- p.Gly1182Ala
- Ensembl rs864309615
- Likely pathogenic
- Coffin-Siris syndrome 1
- Missense
- ClinVar: Likely pathogenic (Coffin-Siris syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic