N54D (p.Asn54Asp) variant of GJB1 (Gap junction beta-1 protein)
N54D (p.Asn54Asp) in GJB1 (Gap junction beta-1 protein) is a missense change. The record also includes structural context.
N54D (p.Asn54Asp) variant details
- p.Asn54Asp
- cosmic curated COSV62139
- Missense
- Structural context available