H16D (p.His16Asp) variant of GJB1 (Gap junction beta-1 protein)
H16D (p.His16Asp) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Peripheral neuropathy; not provided. The record also includes structural context.
H16D (p.His16Asp) variant details
- p.His16Asp
- rs2147944895
- ClinGen CA413499532
- ClinVar RCV001814518
- ClinVar RCV005225423
- Pathogenic/Likely pathogenic
- Peripheral neuropathy; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Peripheral neuropathy; not provided)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available