{{Rsnum
|rsid=137854521
|Chromosome=11
|Orientation=plus
|geno1=(-;-)
|geno2=(-;A)
|geno3=(A;A)
|Gene=ANO5
|position=22221107
|Gene_s=ANO5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=608662
|variant=0004
|rsnum=137854521
}}{{ClinVar
|rsid=137854521
|Reversed=0
|FwdALT=A
|REF=C
|ALT=CA
|RSPOS=22242646
|CHROM=11
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110200
|GENEINFO=ANO5:203859
|GENE_NAME=ANO5
|GENE_ID=203859
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.22242653dupA
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK114459; 608662.0004
|CLNSIG=5
|CLNCUI=C2750076; C1969785
|CLNDBN=Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy, type 2L; not provided
|Disease=Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy; not provided
|CLNACC=RCV000002247.4; RCV000002248.4; RCV000082844.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK114459:NBK1408:C2750076:613319:45448; NBK114459:C1969785:611307:206549
}}{{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.