G287R (p.Gly287Arg) variant of KCNQ4 (P56696)
G287R (p.Gly287Arg) 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.
G287R (p.Gly287Arg) variant details
- p.Gly287Arg
- rs137853969
- ClinGen CA233197
- ClinVar RCV000056155
- ClinVar RCV000144421
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Pathogenic (in DFNA2A)
- UniProt: Pathogenic (in DFNA2A)
- Structural context available
- Cited in: Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. (PMID 21242547)
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)