{{Rsnum
|rsid=104894692
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=FKRP
|position=46756369
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=FKRP
}}{{omim
|id=606596
|rsnum=104894692
|variant=0016
}}{{ClinVar
|rsid=104894692
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=47259626
|CHROM=19
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=FKRP:79147
|GENE_NAME=FKRP
|GENE_ID=79147
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.47259626T>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606596.0016
|CLNSIG=5
|CLNCUI=C3150413; C1846672
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
|Disease=Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; Limb-girdle muscular dystrophy-dystroglycanopathy
|CLNACC=RCV000004454.1; RCV000004455.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet; MedGen:OMIM:Orphanet
|CLNDSDBID=C3150413:613153:588:899; C1846672:607155:34515
}}