{{Rsnum
|rsid=113994095
|Gene=POLG
|Chromosome=15
|position=89327201
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MIR6766,POLG
}}{{omim
|id=174763
|rsnum=113994095
|variant=0002
}}{{ClinVar
|rsid=113994095
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=89870432
|CHROM=15
|GMAF=0.0005
|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.89870432C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK26471; 174763.0002
|CLNSIG=5
|CLNCUI=C1850303; C1843851; C1850303
|CLNDBN=Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Myoclonic epilepsy myopathy sensory ataxia; Progressive sclerosing poliodystrophy
|Disease=Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy; Myoclonic epilepsy myopathy sensory ataxia; Progressive sclerosing poliodystrophy
|CLNACC=RCV000014440.16; RCV000014441.24; RCV000014442.24; RCV000014443.16
|Tags=RV;PM;S3D;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; MedGen; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK26471:C1850303:258450:254886; NBK26471:NBK3795:C1843851:607459:ORPHA254818; C1843852; NBK26471:C0205710:203700:726:20415001
|COMMON=0
}}