{{Rsnum
|rsid=104894679
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=FKRP
|position=46756376
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=FKRP
}}{{omim
|id=606596
|rsnum=104894679
|variant=0001
}}{{ClinVar
|rsid=104894679
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=47259633
|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.47259633A>G
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;OTHERKG;LSD;OM
|CLNACC=RCV000004439.1
|CLNDBN=Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
|CLNDSDB=MedGen
|CLNDSDBID=CN068805
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606596.0001
|Disease=Congenital muscular dystrophy-dystroglycanopathy without mental retardation
}}