F29C (p.Phe29Cys) variant of TSC1 (Hamartin)
F29C (p.Phe29Cys) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
F29C (p.Phe29Cys) variant details
- p.Phe29Cys
- rs2539143018
- ClinGen CA2580079907
- ClinVar RCV002481163
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available