Variant: rs137854523 

    present in Gene: ANO5
    present in Chromosome: 11
    Position on Chromosome: 22236206
    Alleles of this Variant: G/T

rs137854523 in ANO5 gene and Hereditary fructose intolerance syndrome PMID 23670307 2013 Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

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

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 23041008 2013 Dilated cardiomyopathy in patients with mutations in anoctamin 5.

PMID 23606453 2013 ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

PMID 23663589 2013 ANO5-muscular dystrophy: clinical, pathological and molecular findings.

rs137854523 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 25864073 2015 Clinical and genetic features of anoctaminopathy in Saudi Arabia.

PMID 23606453 2013 ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

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 23041008 2013 Dilated cardiomyopathy in patients with mutations in anoctamin 5.

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

PMID 23670307 2013 Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

rs137854523 in ANO5 gene and Osteogenesis imperfecta, Levin type PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

PMID 23041008 2013 Dilated cardiomyopathy in patients with mutations in anoctamin 5.

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

PMID 23606453 2013 ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

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

PMID 23670307 2013 Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.