N43T (p.Asn43Thr) variant of TSC1 (Hamartin)
N43T (p.Asn43Thr) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
N43T (p.Asn43Thr) variant details
- p.Asn43Thr
- Ensembl rs2132270083
- Missense
- Structural context available