G1181D (p.Gly1181Asp) variant of KMT2A (Q03164)
G1181D (p.Gly1181Asp) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wiedemann-Steiner syndrome. The record also includes published literature.
G1181D (p.Gly1181Asp) variant details
- p.Gly1181Asp
- rs2496842241
- ClinGen CA382825155
- ClinVar RCV003484455
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)