C1936Y (p.Cys1936Tyr) variant of KMT2A (Q03164)
C1936Y (p.Cys1936Tyr) 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.
C1936Y (p.Cys1936Tyr) variant details
- p.Cys1936Tyr
- Ensembl rs2134366383
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- UniProt: Likely pathogenic