G1181V (p.Gly1181Val) variant of KMT2A (Q03164)
G1181V (p.Gly1181Val) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Wiedemann-Steiner syndrome.
G1181V (p.Gly1181Val) variant details
- p.Gly1181Val
- cosmic curated COSV63290
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- UniProt: Likely pathogenic