L204V (p.Leu204Val) variant of GJB1 (Gap junction beta-1 protein)
L204V (p.Leu204Val) 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 not provided; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
L204V (p.Leu204Val) variant details
- p.Leu204Val
- rs1064795540
- ClinGen CA413503287
- ClinVar RCV000789823
- ClinVar RCV000805388
- Pathogenic/Likely pathogenic
- not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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)