{{Rsnum
|rsid=137854529
|Gene=ANO5
|Chromosome=11
|position=22274605
|Orientation=plus
|GMAF=0.0009183
|Gene_s=ANO5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{omim
|id=608662
|variant=0006
|rsnum=137854529
}}{{ClinVar
|rsid=137854529
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=22296151
|CHROM=11
|GMAF=0.0009
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=ANO5:203859
|GENE_NAME=ANO5
|GENE_ID=203859
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.22296151C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK114459; 608662.0006
|CLNSIG=5
|CLNCUI=C2750076
|CLNDBN=Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy, type 2L
|Disease=Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy
|CLNACC=RCV000002250.1; RCV000032966.1
|Tags=PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK114459:NBK1408:C2750076:613319:45448; NBK114459:C1969785:611307:206549
|COMMON=1
}}{{PMID|20096397|OA=1
}} Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

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