N2S (p.Asn2Ser) variant of GJB1 (Gap junction beta-1 protein)
N2S (p.Asn2Ser) 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 Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant. The record also includes published literature and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- rs2519797509
- ClinGen CA413499267
- ClinVar RCV003050622
- ClinVar RCV004720376
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)