N2K (p.Asn2Lys) variant of GJB1 (Gap junction beta-1 protein)
N2K (p.Asn2Lys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes published literature and structural context.
N2K (p.Asn2Lys) variant details
- p.Asn2Lys
- rs1602348530
- ClinGen CA413499274
- ClinVar RCV000789206
- ClinVar RCV005231332
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)