H95R (p.His95Arg) variant of GJA1 (Gap junction alpha-1 protein)
H95R (p.His95Arg) 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 not provided. The record also includes published literature and structural context.
H95R (p.His95Arg) variant details
- p.His95Arg
- rs2536821604
- ClinGen CA365558536
- ClinVar RCV002293880
- ClinVar RCV004731261
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia. (PMID 16222672)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)