G761R (p.Gly761Arg) variant of ARID1B (Q8NFD5)
G761R (p.Gly761Arg) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Coffin-Siris syndrome 1.
G761R (p.Gly761Arg) variant details
- p.Gly761Arg
- Ensembl rs1554294583
- Likely pathogenic
- Coffin-Siris syndrome 1
- Missense
- ClinVar: Likely pathogenic (Coffin-Siris syndrome 1)
- UniProt: Likely pathogenic