Q1587R (p.Gln1587Arg) variant of KMT2A (Q03164)
Q1587R (p.Gln1587Arg) 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.
Q1587R (p.Gln1587Arg) variant details
- p.Gln1587Arg
- rs2496918604
- ClinGen CA382834398
- ClinVar RCV002291121
- 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)