T119I (p.Thr119Ile) variant of COL7A1 (Collagen alpha-1(VII) chain)
T119I (p.Thr119Ile) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
T119I (p.Thr119Ile) variant details
- p.Thr119Ile
- TOPMed rs2045864717
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance (in a breast cancer sample)