D46N (p.Asp46Asn) variant of GJB1 (Gap junction beta-1 protein)
D46N (p.Asp46Asn) 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 GJB1-related disorder; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs2519797858
- ClinGen CA413501073
- ClinVar RCV003072880
- ClinVar RCV003404070
- Conflicting interpretations
- GJB1-related disorder; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Conflicting classifications of pathogenicity (GJB1-related disorder; Charcot-Marie-Tooth Neuropathy X)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)