Variant: rs121909273 

    present in Gene: BIN1
    present in Chromosome: 2
    Position on Chromosome: 127076686
    Alleles of this Variant: C/A

rs121909273 in BIN1 gene and Myopathy, Centronuclear, Autosomal Recessive PMID 17676042 2007 Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

PMID 20142620 2010 Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

PMID 22617344 2012 Clinical utility gene card for: Centronuclear and myotubular myopathies.

PMID 29950440 2018 A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

PMID 24755653 2014 Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization.