R142Q (p.Arg142Gln) variant of GJB1 (Gap junction beta-1 protein)
R142Q (p.Arg142Gln) 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 Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
R142Q (p.Arg142Gln) variant details
- p.Arg142Gln
- rs786204123
- ClinGen CA334230
- ClinVar RCV000168077
- ClinVar RCV000714875
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not p)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience. (PMID 10586284)
- Cited in: Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and… (PMID 10923043)