A88V (p.Ala88Val) variant of GJB6 (Gap junction beta-6 protein)
A88V (p.Ala88Val) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromi. The record also includes published literature and structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- rs28937872
- ClinGen CA253528
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53832
- Pathogenic
- Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromi
- Missense
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 1B; Autosomal domi)
- EBI: Pathogenic (in ECTD2)
- UniProt: Pathogenic (in ECTD2)
- Structural context available
- Cited in: Mutations in GJB6 cause hidrotic ectodermal dysplasia. (PMID 11017065)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)