V96A (p.Val96Ala) variant of GJA1 (Gap junction alpha-1 protein)
V96A (p.Val96Ala) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oculodentodigital dysplasia, autosomal recessive. The record also includes published literature and structural context.
V96A (p.Val96Ala) variant details
- p.Val96Ala
- rs2536821609
- ClinGen CA365558549
- ClinVar RCV003518755
- UniProt VAR 058999
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. (PMID 19338053)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)