T119P (p.Thr119Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
T119P (p.Thr119Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a breast cancer sample. The record also includes published literature.
T119P (p.Thr119Pro) variant details
- p.Thr119Pro
- UniProt VAR 035740
- Uncertain significance
- in a breast cancer sample
- Missense
- EBI: Variant of uncertain significance (in a breast cancer sample)
- UniProt: Uncertain significance (in a breast cancer sample)
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)