The POLG gene homepage

General information
Gene symbol POLG
Gene name polymerase (DNA directed), gamma
Chromosome 15
Chromosomal band q24
Imprinted Unknown
Genomic reference LRG_765
Transcript reference NM_002693.2
Exon/intron information NM_002693.2 exon/intron table
Associated with diseases MTDPS4A, MTDPS4B, PEOA1, PEOB1, SANDO
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 451
Unique public DNA variants reported 262
Individuals with public variants 278
Hidden variants 54
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated January 11, 2023
Version POLG:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002693.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 9179
Entrez Gene 5428
PubMed articles POLG
OMIM - Gene 174763
OMIM - Diseases MTDPS4A (mitochondrial DNA depletion syndrome, type 1 (MTDPS-4A, progressive sclerosing poliodystrophy))
MTDPS4B (mitochondrial DNA depletion syndrome, type 4B (MTDPS-4B, MNGIE type))
PEOA1 (ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 1 (PEOA-1))
PEOB1 (ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal recessive, type 1 (PEOB-1))
SANDO (mitochondrial recessive ataxia syndrome (includes SANDO and SCAE))
GeneCards POLG
GeneTests POLG
Orphanet POLG

Active transcripts




NCBI ID     

NCBI Protein ID     

00023868 15 transcript variant 1 NM_002693.2 NP_002684.1 451

Copyright & disclaimer
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