{{Rsnum
|rsid=113994096
|Gene=POLG
|Chromosome=15
|position=89325639
|Orientation=plus
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=POLG
}}{{omim
|id=174763
|rsnum=113994096
|variant=0011
}}{{ClinVar
|rsid=113994096
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=89868870
|CHROM=15
|GMAF=0.0009
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050360000000040016110100
|GENEINFO=POLG:5428
|GENE_NAME=POLG
|GENE_ID=5428
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.89868870G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK26471; 174763.0011
|CLNSIG=5
|CLNCUI=C3150914; C1850303; C0872218
|CLNDBN=Mitochondrial DNA depletion syndrome 4B, MNGIE type; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Mitochondrial neurogastrointestinal encephalomyopathy syndrome
|Disease=Mitochondrial DNA depletion syndrome 4B; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Mitochondrial neurogastrointestinal encephalomyopathy syndrome
|CLNACC=RCV000014456.24; RCV000014457.24; RCV000020473.1
|Tags=RV;PM;S3D;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=C3150914:613662:298; NBK26471:C1850303:258450:254886; NBK1179:NBK26471:C0872218:603041:298
|COMMON=0
}}