rs2133520474

This variant is located in the ANO5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L

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About ANO5

This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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