N43D (p.Asn43Asp) variant of TSC1 (Hamartin)
N43D (p.Asn43Asp) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
N43D (p.Asn43Asp) variant details
- p.Asn43Asp
- Ensembl rs2132270154
- Missense
- Structural context available