G21S (p.Gly21Ser) variant of GJB1 (Gap junction beta-1 protein)
G21S (p.Gly21Ser) 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 Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs1602348633
- ClinGen CA413500684
- ClinVar RCV000790299
- ClinVar RCV003447307
- Uncertain significance
- Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-T)
- EBI: Variant of uncertain significance (in CMTX1)
- UniProt: Uncertain significance (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)