E9Q (p.Glu9Gln) variant of TSC1 (Hamartin)
E9Q (p.Glu9Gln) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- Ensembl rs1847040374
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available