T52I (p.Thr52Ile) variant of BCL10 (B-cell lymphoma/leukemia 10)
T52I (p.Thr52Ile) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes published literature.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- UniProt VAR 013212
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types. (PMID 9989495)