T67I (p.Thr67Ile) variant of BIN1 (O00499)
T67I (p.Thr67Ile) in BIN1 (O00499) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Myopathy, centronuclear, 2. The record also includes structural context.
T67I (p.Thr67Ile) variant details
- p.Thr67Ile
- TOPMed rs1573650069
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- UniProt: Uncertain significance
- Structural context available