Variant: rs115750596 

    present in Gene: ANO5
    present in Chromosome: 11
    Position on Chromosome: 22227542
    Alleles of this Variant: G/A

rs115750596 in ANO5 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 22499103 2012 Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

PMID 20096397 2010 Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

PMID 25864073 2015 Clinical and genetic features of anoctaminopathy in Saudi Arabia.