C1471W (p.Cys1471Trp) variant of KMT2D (O14686)
C1471W (p.Cys1471Trp) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Kabuki syndrome. The record also includes published literature and structural context.
C1471W (p.Cys1471Trp) variant details
- p.Cys1471Trp
- rs747889445
- ClinGen CA384646467
- ClinVar RCV003332793
- ClinVar RCV005103955
- Pathogenic
- not provided; Kabuki syndrome
- Missense
- ClinVar: Pathogenic (not provided; Kabuki syndrome)
- EBI: Pathogenic (in KABUK1)
- UniProt: Pathogenic (in KABUK1)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)