{{Rsnum
|rsid=41549716
|Gene=POLG
|Chromosome=15
|position=89321842
|Orientation=minus
|GMAF=0.001837
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=POLG
}}{{omim
|id=174763
|rsnum=41549716
|variant=0015
}}

{{ClinVar
|rsid=41549716
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=89865073
|CHROM=15
|GMAF=0.0018
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050260000000040516110100
|GENEINFO=POLG:5428
|GENE_NAME=POLG
|GENE_ID=5428
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.89865073T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=174763.0015
|CLNSIG=5
|CLNCUI=C1834846
|CLNDBN=Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
|Disease=Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
|CLNACC=RCV000014463.24
|Tags=RV;PM;S3D;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9982; 0.001837
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1203:NBK26471:C1834846:157640
|COMMON=1
}}

{{GET Evidence
|gene=POLG
|aa_change=Tyr831Cys
|aa_change_short=Y831C
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs41549716
|overall_frequency_n=86
|overall_frequency_d=10758
|overall_frequency=0.00799405
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|qualitycomment_familial=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.991
|genetests_testable=Y
|nblosum100=6
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=A rare polymorphism in POLG, probably benign. A small study of a nuclear family hypothesized it was causing Parkinson disease, but a later study found no significant difference in incidence between cases (1/140) and controls (5/127).
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}