chr17:18305208:G>A Detail (hg38) (TOP3A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:18,208,522-18,208,522 View the variant detail on this assembly version. |
| hg38 | chr17:18,305,208-18,305,208 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000321105.10:c.403C>T | ENST00000321105.10:p.Arg135Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2017-11-15 | no assertion criteria provided | Mitochondrial disease |
germline
|
Detail |
|
Pathogenic
|
2024-03-07 | no assertion criteria provided | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) AND Mitochondrial disease | ClinVar | Detail |
| NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) AND Progressive external ophthalmoplegia with mitochondria... | ClinVar | 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
- rs200944917 dbSNP
- Genome
- hg38
- Position
- chr17:18,305,208-18,305,208
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8602
- 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)
- 121054
- Allele Counts in All Race (ExAC)
- 24
- Heterozygous Counts in All Race (ExAC)
- 24
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.9825862838072266E-4
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