A40T (p.Ala40Thr) variant of GJB1 (Gap junction beta-1 protein)
A40T (p.Ala40Thr) 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 not provided; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs1602348782
- ClinGen CA413500989
- ClinVar RCV000789262
- ClinVar RCV001227710
- Conflicting interpretations
- not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene. (PMID 12536289)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)