V42I (p.Val42Ile) variant of TSC1 (Hamartin)
V42I (p.Val42Ile) in TSC1 (Hamartin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1. The record also includes structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- ExAC rs777537794
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Tuberous sclerosis 1)
- UniProt: Uncertain significance
- Structural context available