POLRMT Chromosome 19
RNA polymerase mitochondrial
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What This Gene Does
This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pentatricopeptide repeat containing|Mitochondrial transcription initiation complex subunits"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000099821
Associated Conditions (2)
Combined oxidative phosphorylation deficiency 55
POLRMT-related disorder
Key Variants
RS140649984
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 55, POLRMT-related disorder, Combined oxidative phosphorylation deficiency 55
Health Risk
RS145312875
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
Health Risk
RS200224860
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
Health Risk
RS553666754
Conflicting classifications of pathogenicity
Health Risk
RS554752905
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
Health Risk
RS559530795
Conflicting classifications of pathogenicity
Health Risk
RS748846799
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
Health Risk
RS767782097
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
Health Risk
RS773064014
Conflicting classifications of pathogenicity
Health Risk
RS2511982267
Likely pathogenic
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
Health Risk
RS776192083
Likely pathogenic
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
Health Risk
RS137994680
Pathogenic
Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140649984 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 55, POLRMT-related disorder, Combined oxidative phosphorylation deficiency 55 |
| RS145312875 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS200224860 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS553666754 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS554752905 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS559530795 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748846799 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS767782097 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS773064014 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2511982267 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS776192083 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS137994680 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS2144625053 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS55752843 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS745348188 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS748687181 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS750698432 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |
| RS778201827 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55 |