G38S (p.Gly38Ser) variant of TSC1 (Hamartin)
G38S (p.Gly38Ser) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; not provided. The record also includes structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- TOPMed rs1846929239
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available