I28T (p.Ile28Thr) variant of GJB1 (Gap junction beta-1 protein)
I28T (p.Ile28Thr) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li. The record also includes published literature and structural context.
I28T (p.Ile28Thr) variant details
- p.Ile28Thr
- rs768834663
- ClinGen CA10584633
- ClinVar RCV000235732
- ClinVar RCV000789177
- Conflicting interpretations
- Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-To)
- 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: Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. (PMID 9818870)