BIN1
Gene name: bridging integrator 1OMIM ID: 601248
Chromosome location: 2q14.3
Mutations
| Disease/Phenotype | Myopathy, centronuclear |
|---|---|
| Reference transcript | NM_139343.2 |
| DNA Change | c.461G>A |
| A.A. Change | p.Arg154Gln |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | Claeys KG, Maisonobe T, B?hm J, Laporte J, Hezode M, Romero NB, Brochier G, Bitoun M, Carlier RY, Stojkovic T.Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. Neurology. 2010 Feb 9;74(6):519-21. |