chr15:89316320:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:89,859,551-89,878,092 |
| hg38 | chr15:89,316,320-89,334,861 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | Liver failure | A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver fa... | BeFree | 25065347 | Detail |
| 0.003 | Cardiomyopathy, Dilated | NA | LHGDN | Detail | |
| 0.140 | Diffuse Cerebral Sclerosis of Schilder | Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit... | BeFree,CTD_human,GAD,LHGDN | 25660390 | Detail |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| 0.002 | Diabetes Mellitus, Insulin-Dependent | NA | GAD | Detail | |
| <0.001 | encephalitis | NA | BeFree | Detail | |
| 0.123 | epilepsy | NA | BeFree,CTD_human | Detail | |
| <0.001 | Epilepsies, Myoclonic | NA | BeFree | Detail | |
| 0.003 | Failure to Thrive | NA | LHGDN | Detail | |
| 0.002 | Friedreich ataxia | NA | GAD | Detail | |
| 0.002 | Headache | NA | GAD | Detail | |
| 0.003 | Sensorineural Hearing Loss (disorder) | NA | LHGDN | Detail | |
| <0.001 | hepatic encephalopathy | NA | BeFree | Detail | |
| 0.003 | HIV Infections | NA | BeFree,GAD | Detail | |
| 0.002 | Hypertensive disease | NA | GAD | Detail | |
| 0.136 | male infertility | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| <0.001 | Kearns-Sayre syndrome | NA | BeFree | Detail | |
| <0.001 | keratoconus | In conclusion, the variability of the XRCC1 and POLG genes may play a role in KC... | BeFree | 25356504 | Detail |
| 0.120 | Leigh disease | NA | BeFree,UNIPROT | Detail | |
| 0.002 | lipodystrophy | NA | GAD | Detail | |
| 0.003 | multiple sclerosis | NA | BeFree,GAD | Detail | |
| <0.001 | myopathy | NA | BeFree | Detail | |
| <0.001 | Myoclonus | NA | BeFree | Detail | |
| 0.003 | Neoplasms, Germ Cell and Embryonal | NA | LHGDN | Detail | |
| 0.001 | nervous system disorder | NA | BeFree | Detail | |
| 0.002 | obesity | NA | GAD | Detail | |
| <0.001 | oligospermia | NA | BeFree | Detail | |
| 0.001 | ophthalmoplegia | NA | BeFree | Detail | |
| <0.001 | optic atrophy | NA | BeFree | Detail | |
| 0.011 | Parkinson disease | Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy... | BeFree,GAD,LHGDN | 25585994 | Detail |
| 0.121 | Peripheral neuropathy | NA | BeFree,CTD_human | Detail | |
| 0.002 | polycystic ovary syndrome | NA | GAD | Detail | |
| <0.001 | ptosis | NA | BeFree | Detail | |
| 0.002 | Delayed puberty | NA | GAD | Detail | |
| 0.002 | Precocious Puberty | NA | GAD | Detail | |
| 0.126 | Seizures | POLG1 mutations are common, and these patients often suffer from intractable sei... | BeFree,CTD_human,GAD,LHGDN | 25065347 | Detail |
| <0.001 | Shy-Drager Syndrome | NA | BeFree | Detail | |
| 0.082 | status epilepticus | NA | BeFree,RGD | Detail | |
| 0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| 0.003 | Tremor | NA | BeFree,LHGDN | Detail | |
| 0.007 | Ovarian Failure, Premature | NA | BeFree,GAD | Detail | |
| <0.001 | Epilepsia Partialis Continua | NA | BeFree | Detail | |
| <0.001 | Encephalopathies | NA | BeFree | Detail | |
| <0.001 | Sensory neuropathy | The widespread neuromuscular signs were often present since disease onset and we... | BeFree | 25118206 | Detail |
| 0.003 | polyneuropathy | NA | BeFree,LHGDN | Detail | |
| 0.003 | Blindness, Cortical | NA | LHGDN | Detail | |
| <0.001 | External Ophthalmoplegia | NA | BeFree | Detail | |
| 0.003 | Liver Failure, Acute | Acute liver failure after valproate exposure in patients with POLG1 mutations an... | BeFree,LHGDN | 25065347 | Detail |
| 0.001 | Mitochondrial Myopathies | NA | BeFree | Detail | |
| <0.001 | MELAS syndrome | NA | BeFree | Detail | |
| 0.003 | MERRF syndrome | NA | BeFree,LHGDN | Detail | |
| 0.158 | chronic progressive external ophthalmoplegia | Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit... | BeFree,CTD_human,GAD,LHGDN | 25660390 | Detail |
| 0.489 | Alpers Syndrome (disorder) | Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 25660390 | Detail |
| <0.001 | Premature aging syndrome | NA | BeFree | Detail | |
| 0.001 | Ataxic | NA | BeFree | Detail | |
| <0.001 | Peripheral motor neuropathy | NA | BeFree | Detail | |
| <0.001 | Inclusion Body Myositis (disorder) | POLG variants appeared more common in IBM patients with many COX-deficient fiber... | BeFree | 25638290 | Detail |
| <0.001 | Ataxia, Sensory | NA | BeFree | Detail | |
| 0.140 | Parkinsonian Disorders | POLG1-related levodopa-responsive parkinsonism. | BeFree,CTD_human,LHGDN | 25203713 | Detail |
| <0.001 | Leukoencephalopathies | NA | BeFree | Detail | |
| <0.001 | axonal neuropathy | NA | BeFree | Detail | |
| 0.001 | Depletion of mitochondrial DNA | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | multiple system atrophy | NA | BeFree | Detail | |
| 0.002 | thrombophilia | NA | GAD | Detail | |
| <0.001 | neuropathy | NA | BeFree | Detail | |
| <0.001 | INFERTILITY/SUBFERTILITY MALE | NA | BeFree | Detail | |
| 0.004 | Neurodegenerative Disorders | NA | BeFree,LHGDN | Detail | |
| 0.003 | Mood Disorders | NA | BeFree,LHGDN | Detail | |
| <0.001 | Epileptic encephalopathy | NA | BeFree | Detail | |
| 0.122 | Menopause present (finding) | NA | GAD,GWASCAT | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Subfertility | NA | BeFree | Detail | |
| <0.001 | focal dystonia | NA | BeFree | Detail | |
| <0.001 | Infantile Severe Myoclonic Epilepsy | NA | BeFree | Detail | |
| 0.001 | Ophthalmoparesis | Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit... | BeFree | 25660390 | Detail |
| <0.001 | adult acute lymphocytic leukemia | NA | BeFree | Detail | |
| 0.256 | Mitochondrial Diseases | An analysis of the POLG1 gene should be performed for all patients with suspecte... | BeFree,CLINVAR,CTD_human,LHGDN | 25065347 | Detail |
| 0.256 | Mitochondrial Diseases | Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymeras... | BeFree,CLINVAR,CTD_human,LHGDN | 25118206 | Detail |
| 0.256 | Mitochondrial Diseases | Mutations in the POLG gene, encoding the catalytic subunit of the human polymera... | BeFree,CLINVAR,CTD_human,LHGDN | 26077851 | Detail |
| 0.360 | Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, ... | UNIPROT | 15534189 | Detail |
| 0.489 | Alpers Syndrome (disorder) | A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, ... | UNIPROT | 15534189 | Detail |
| 0.120 | Drug-Induced Liver Injury | NA | CTD_human | Detail | |
| <0.001 | Cardiomyopathies | NA | BeFree | Detail | |
| <0.001 | Ovarian adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Drug Resistant Epilepsy | NA | BeFree | Detail | |
| 0.002 | Chromosomal Instability | NA | GAD | Detail | |
| <0.001 | Liver regeneration disorder | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| 0.121 | Spinocerebellar ataxia with epilepsy | Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit... | BeFree,CLINVAR | 25660390 | Detail |
| <0.001 | Coenzyme Q10 deficiency | NA | BeFree | Detail | |
| <0.001 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 | NA | BeFree | Detail | |
| 0.002 | 46, XX Disorders of Sex Development | NA | GAD | Detail | |
| 0.080 | myelodysplastic syndrome | NA | MGD | Detail | |
| 0.003 | Ataxia Neuropathy Spectrum | We aim to describe the longitudinal clinical features and the treatment response... | BeFree | 25203713 | Detail |
| 0.003 | Ataxia Neuropathy Spectrum | Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit... | BeFree | 25660390 | Detail |
| 0.003 | Acidosis, Lactic | NA | BeFree,LHGDN | Detail | |
| <0.001 | Alzheimer's disease | Our results provide new information of pathognostic importance of POLG and granz... | BeFree | 25428253 | Detail |
| <0.001 | amenorrhea | NA | BeFree | Detail | |
| 0.007 | Ataxia | NA | BeFree,LHGDN | Detail | |
| <0.001 | autistic disorder | NA | BeFree | Detail | |
| <0.001 | bipolar disorder | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| <0.001 | Blepharoptosis | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A heterozygous POLG1 p.Q1236H mutation was related to valproate-induced liver failure without mtDNA ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specif... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, the variability of the XRCC1 and POLG genes may play a role in KC pathogenesis and de... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| POLG1 mutations are common, and these patients often suffer from intractable seizures. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The widespread neuromuscular signs were often present since disease onset and were the rule above 50... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis afte... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specif... | DisGeNET | Detail |
| Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specif... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| POLG variants appeared more common in IBM patients with many COX-deficient fibers, but the differenc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| POLG1-related levodopa-responsive parkinsonism. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specif... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| An analysis of the POLG1 gene should be performed for all patients with suspected mitochondrial dise... | DisGeNET | Detail |
| Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to ha... | DisGeNET | Detail |
| Mutations in the POLG gene, encoding the catalytic subunit of the human polymerase gamma, have been ... | DisGeNET | Detail |
| A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. | DisGeNET | Detail |
| A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specif... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We aim to describe the longitudinal clinical features and the treatment response of three unrelated ... | DisGeNET | Detail |
| Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specif... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results provide new information of pathognostic importance of POLG and granzyme B in AD. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386579081 dbSNP
- Genome
- hg38
- Position
- chr15:89,316,320-89,334,861
- Variant Type
- snv
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