G59V (p.Gly59Val) variant of GJB6 (Gap junction beta-6 protein)
G59V (p.Gly59Val) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant nonsyndromic hearing loss 3B; Autosomal recessive nonsyndromi. The record also includes published literature and structural context.
G59V (p.Gly59Val) variant details
- p.Gly59Val
- rs2137333887
- ClinGen CA387468680
- ClinVar RCV002300270
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 3B; Autosomal recessive nonsyndromi
- Missense
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 3B; Autosomal reces)
- EBI: Variant of uncertain significance (found in one patient with a syndrome resembling Vohwinkel and Ba)
- UniProt: Uncertain significance (found in one patient with a syndrome resembling Vohwinkel and Ba)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)