{{Rsnum
|rsid=387906638
|Chromosome=2
|position=69374078
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=GFPT1
|Gene_s=GFPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=2
|CLNACC=RCV000022591.26
|CLNALLE=1
|CLNDBN=Myasthenia, limb-girdle, with tubular aggregates
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C1864649:610542:353327:590
|CLNHGVS=NC_000002.11:g.69601210T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=138292.0005
|Disease=Myasthenia
|FwdALT=G
|FwdREF=A
|REF=T
|RSPOS=69601210
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906638
|GENEINFO=GFPT1:2673
|GENE_ID=2673
|GENE_NAME=GFPT1
}}