N43I (p.Asn43Ile) variant of TSC1 (Hamartin)
N43I (p.Asn43Ile) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
N43I (p.Asn43Ile) variant details
- p.Asn43Ile
- Ensembl rs2132270083
- Missense
- Structural context available