GENETIC ENCYCLOPEDIA
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gene: ANO5

id203859
symbolANO5
organismHomo sapiens
full nameanoctamin 5
summaryThis 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]
variant-disease

NM_213599.2(ANO5):c.1066T>G (p.Cys356Gly) AND Gnathodiaphyseal dysplasia

NM_213599.2(ANO5):c.191dupA AND Miyoshi muscular dystrophy 3

NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) AND Limb-girdle muscular dystrophy, type 2L

NM_213599.2(ANO5):c.196_200CAAAG[1] (p.Ser67fs) AND not provided

NM_213599.2(ANO5):c.1520del (p.Phe507fs) AND not provided

... 777 more


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