POLG gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol POLG
Gene name polymerase (DNA directed), gamma
Chromosome 15
Chromosomal band q24
Imprinted Unknown
Genomic reference NC_000015.9
Transcript reference NM_001126131.1, NM_002693.2
Associated with diseases 258450, MTDPS1, MTDPS4A, MTDPS4B, PEOA1, SANDO
Citation reference(s) -
Curators (0) -
Total number of public variants reported 772
Unique public DNA variants reported 651
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 9179
Entrez Gene 5428
PubMed articles POLG
OMIM - Gene 174763
OMIM - Diseases 258450 (Progressive external ophthalmoplegia, autosomal recessive, 258450 (3))
MTDPS1 (Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3))
MTDPS4A (Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700)
MTDPS4B (Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3))
PEOA1 (Progressive external ophthalmoplegia, autosomal dominant, 157640 (3))
SANDO (Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3))
GeneCards POLG
GeneTests POLG

Active transcripts




NCBI ID     

NCBI Protein ID     

00000267 15 transcript variant 1 NM_002693.2 NP_002684.1 772
00000266 15 transcript variant 2 NM_001126131.1 NP_001119603.1 771

Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium