chr15:89321792:C>T Detail (hg38) (POLG, POLGARF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:89,865,023-89,865,023 View the variant detail on this assembly version. |
| hg38 | chr15:89,321,792-89,321,792 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126131.1:c.2542G>A | NP_001119603.1:p.Gly848Ser |
| NM_002693.2:c.2542G>A | NP_002684.1:p.Gly848Ser | |
| Ensemble | ENST00000268124.11:c.2542G>A | ENST00000268124.11:p.Gly848Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2009-03-24 | no assertion criteria provided | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 |
germline
|
Detail |
|
Pathogenic
|
2009-03-24 | no assertion criteria provided | Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic |
germline
|
Detail |
|
Pathogenic
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | Progressive sclerosing poliodystrophy |
germline
maternal
paternal
unknown
|
Detail |
|
Pathogenic
|
2009-03-24 | no assertion criteria provided | mitochondrial DNA depletion syndrome 4b |
germline
|
Detail |
|
Pathogenic
|
2023-07-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-03-05 | criteria provided, multiple submitters, no conflicts | POLG-Related Spectrum Disorders |
germline
|
Detail |
|
Pathogenic
|
2022-03-12 | criteria provided, single submitter | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy |
unknown
|
Detail |
|
Pathogenic
|
2022-03-12 | criteria provided, single submitter | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy |
unknown
|
Detail |
|
Pathogenic
|
2022-03-12 | criteria provided, single submitter | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy |
unknown
|
Detail |
|
Pathogenic
|
2022-03-12 | criteria provided, single submitter | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy |
unknown
|
Detail |
|
Pathogenic
|
2022-03-12 | criteria provided, single submitter | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy |
unknown
|
Detail |
|
Pathogenic
|
2022-03-12 | criteria provided, single submitter | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,mitochondrial DNA depletion syndrome 1,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy |
unknown
|
Detail |
|
Pathogenic
|
2021-04-17 | criteria provided, multiple submitters, no conflicts | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 |
germline
paternal
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, multiple submitters, no conflicts | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, multiple submitters, no conflicts | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, multiple submitters, no conflicts | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, multiple submitters, no conflicts | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
germline
|
Detail |
|
Pathogenic
|
2021-03-30 | criteria provided, multiple submitters, no conflicts | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,mitochondrial DNA depletion syndrome 4b,sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
germline
|
Detail |
|
Pathogenic
|
2018-11-01 | criteria provided, single submitter | hereditary spastic paraplegia |
germline
|
Detail |
|
Pathogenic
|
2022-01-20 | criteria provided, single submitter | Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 4b |
germline
|
Detail |
|
Pathogenic
|
2022-01-20 | criteria provided, single submitter | Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 4b |
germline
|
Detail |
|
Pathogenic
|
2022-01-20 | criteria provided, single submitter | Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 4b |
germline
|
Detail |
|
Pathogenic
|
2022-01-20 | criteria provided, single submitter | Progressive sclerosing poliodystrophy,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1,Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1,mitochondrial DNA depletion syndrome 4b |
germline
|
Detail |
not provided
|
no assertion provided | Mitochondrial disease |
germline
|
Detail | |
|
Pathogenic
|
2017-01-27 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
|
Pathogenic
|
2023-04-11 | criteria provided, single submitter | mitochondrial DNA depletion syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-11-10 | criteria provided, multiple submitters, no conflicts | POLG-related disorder |
germline
maternal
paternal
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | NA | CLINVAR | Detail | |
| 0.481 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | NA | CLINVAR | Detail | |
| 0.489 | Alpers Syndrome (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Progressive external ophthalmoplegia with mitochondria... | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Progressive external ophthalmoplegia with mitochondria... | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Progressive sclerosing poliodystrophy | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Mitochondrial DNA depletion syndrome 4b | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND not provided | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND POLG-Related Spectrum Disorders | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Progressive external ophthalmoplegia with mitochondria... | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Hereditary spastic paraplegia | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND multiple conditions | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Mitochondrial disease | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Inborn genetic diseases | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND Mitochondrial DNA depletion syndrome | ClinVar | Detail |
| NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND POLG-related disorder | ClinVar | 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
- rs113994098 dbSNP
- Genome
- hg38
- Position
- chr15:89,321,792-89,321,792
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121332
- Allele Counts in All Race (ExAC)
- 19
- Heterozygous Counts in All Race (ExAC)
- 19
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.5659512741898263E-4
Genome browser