{{Rsnum
|rsid=201322234
|Gene=GFPT1
|Chromosome=2
|position=69363563
|Orientation=plus
|GMAF=0.0004591
|Gene_s=GFPT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=A
|CAF=0.9995; 0.0004591
|CHROM=2
|CLNACC=RCV000022587.25
|CLNALLE=1
|CLNDBN=Myasthenia, limb-girdle, with tubular aggregates
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C1864649:610542:353327:590
|CLNHGVS=NC_000002.11:g.69590695G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=138292.0001
|COMMON=0
|Disease=Myasthenia
|FwdALT=A
|FwdREF=G
|GENEINFO=GFPT1:2673
|GENE_ID=2673
|GENE_NAME=GFPT1
|REF=G
|RSPOS=69590695
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000016110100
|WGT=0
|dbSNPBuildID=137
|rsid=201322234
}}