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
Notes	MSeqDR-LSDB
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))
HGMD	POLG
GeneCards	POLG
GeneTests	POLG

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
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