H16R (p.His16Arg) variant of GJB1 (Gap junction beta-1 protein)
H16R (p.His16Arg) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
H16R (p.His16Arg) variant details
- p.His16Arg
- rs1602348610
- ClinGen CA413499542
- ClinVar RCV002260735
- Ensembl rs1602348610
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available