Variant: rs137854529 

    present in Gene: ANO5
    present in Chromosome: 11
    Position on Chromosome: 22274605
    Alleles of this Variant: C/T

rs137854529 in ANO5 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) PMID 27911336 2016 Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

PMID 24803842 2013 Eosinophils in hereditary and inflammatory myopathies.

PMID 21739273 2011 [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].

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

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

PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 25135358 2014 Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

PMID 22980763 2012 Muscle MRI findings in limb girdle muscular dystrophy type 2L.

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

PMID 22402862 2012 Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

PMID 21186264 2011 A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

rs137854529 in ANO5 gene and Miyoshi Muscular Dystrophy 3 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.

rs137854529 in ANO5 gene and Osteogenesis imperfecta, Levin type PMID 21186264 2011 A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

PMID 25135358 2014 Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

PMID 21739273 2011 [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].

PMID 27911336 2016 Decreased Aerobic Capacity in ANO5-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 22402862 2012 Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

PMID 22980763 2012 Muscle MRI findings in limb girdle muscular dystrophy type 2L.

PMID 24803842 2013 Eosinophils in hereditary and inflammatory myopathies.