W275R (p.Trp275Arg) variant of KCNQ4 (P56696)
W275R (p.Trp275Arg) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A. The record also includes published literature and structural context.
W275R (p.Trp275Arg) variant details
- p.Trp275Arg
- rs797044968
- ClinGen CA347395
- ClinVar RCV000655879
- Ensembl rs797044968
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)