T18A (p.Thr18Ala) variant of GJB1 (Gap junction beta-1 protein)
T18A (p.Thr18Ala) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- rs1555937012
- ClinGen CA413500626
- ClinVar RCV000506203
- ClinVar RCV000796386
- Uncertain significance
- not specified; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Uncertain significance (not specified; Charcot-Marie-Tooth Neuropathy X)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)