H16P (p.His16Pro) variant of GJB1 (Gap junction beta-1 protein)
H16P (p.His16Pro) 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 Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
H16P (p.His16Pro) variant details
- p.His16Pro
- rs1602348610
- ClinGen CA413499537
- ClinVar RCV000789173
- ClinVar RCV006464241
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)