M4T (p.Met4Thr) variant of BIN1 (O00499)
M4T (p.Met4Thr) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, centronuclear, 2. The record also includes published literature and structural context.
M4T (p.Met4Thr) variant details
- p.Met4Thr
- rs2467800316
- ClinGen CA348376354
- ClinVar RCV003510297
- Uncertain significance
- Myopathy, centronuclear, 2
- Missense
- ClinVar: Uncertain significance (Myopathy, centronuclear, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: Centronuclear and myotubular myopathies. (PMID 22617344)