chr15:89323460:C>T Detail (hg38) (POLG, POLGARF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:89,866,691-89,866,691 View the variant detail on this assembly version. |
| hg38 | chr15:89,323,460-89,323,460 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126131.1:c.2209G>A | NP_001119603.1:p.Gly737Arg |
| NM_002693.2:c.2209G>A | NP_002684.1:p.Gly737Arg | |
| Ensemble | ENST00000268124.11:c.2209G>A | ENST00000268124.11:p.Gly737Arg |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2017-10-16 | criteria provided, single submitter | not provided |
germline
|
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 | |
| 0.481 | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | NA | CLINVAR | Detail | |
| 0.481 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | Early-onset familial parkinsonism due to POLG mutations. | UNIPROT | 16634032 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002693.3(POLG):c.2209G>A (p.Gly737Arg) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Early-onset familial parkinsonism due to POLG mutations. | 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
- rs121918054 dbSNP
- Genome
- hg38
- Position
- chr15:89,323,460-89,323,460
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 120884
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.272393368849475E-6
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