G287S (p.Gly287Ser) variant of KCNQ4 (P56696)
G287S (p.Gly287Ser) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A. The record also includes published literature and structural context.
G287S (p.Gly287Ser) variant details
- p.Gly287Ser
- rs137853969
- ClinGen CA339895868
- ClinVar RCV001258340
- Ensembl rs137853969
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Pathogenic (in DFNA2A)
- UniProt: Pathogenic (in DFNA2A)
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)