{{Rsnum
|rsid=113994098
|Chromosome=15
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=POLG
|position=89321792
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=POLG
}}{{omim
|id=174763
|rsnum=113994098
|variant=0006
}}{{ClinVar
|rsid=113994098
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=89865023
|CHROM=15
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050360000000040002110100
|GENEINFO=POLG:5428
|GENE_NAME=POLG
|GENE_ID=5428
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.89865023C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK26471; 174763.0006
|CLNSIG=5
|CLNCUI=C1850303; C3150914; C1850303
|CLNDBN=Cerebellar ataxia infantile with progressive external ophthalmoplegia; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC; Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type
|Disease=Cerebellar ataxia infantile with progressive external ophthalmoplegia; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS; Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B
|CLNACC=RCV000014449.16; RCV000014450.23; RCV000014451.16; RCV000014452.23
|Tags=RV;PM;S3D;SLO;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen:OMIM:Orphanet
|CLNDSDBID=NBK26471:C1850303:258450:254886; NBK26471:C0205710:203700:726:20415001; C3150914:613662:298
}}