chr9:129720663:C>G Detail (hg38) (PRRX2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:132,482,942-132,482,942 View the variant detail on this assembly version. |
| hg38 | chr9:129,720,663-129,720,663 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_016307.3:c.515C>G | NP_057391.1:p.Ala172Gly |
| Ensemble | ENST00000372469.6:c.515C>G | ENST00000372469.6:p.Ala172Gly |
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 | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | To clarify the biological significance of the interaction of the redox system (P... | BeFree | 14648077 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | To clarify the biological significance of the interaction of the redox system (P... | BeFree | 14648077 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 ... | DisGeNET | Detail |
| To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 ... | 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
- -
- Genome
- hg38
- Position
- chr9:129,720,663-129,720,663
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8622
- 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)
- 120338
- Allele Counts in All Race (ExAC)
- 12
- Heterozygous Counts in All Race (ExAC)
- 12
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.971912446608719E-5
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