Variant: rs137854521 

    present in Gene: ANO5
    present in Chromosome: 11
    Position on Chromosome: 22221100
    Alleles of this Variant: -/A

rs137854521 in ANO5 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) PMID 21186264 2011 A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

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

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

rs137854521 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 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 21739273 2011 [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].

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