chrX:107645193:> Detail (hg38) (PRPS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:106,888,423-106,888,425 |
| hg38 | chrX:107,645,193-107,645,195 |
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
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| childhood B-cell acute lymphoblastic leukemia | Mercaptopurine,Thioguanine | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 25962120 | Detail |
| childhood B-cell acute lymphoblastic leukemia | Daunorubicin,Methotrexate,Cytarabine,Asparaginase | D |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 25962120 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Lentiviral-mediated overexpression of PRPS1 D183E in Reh cells resulted in significant resistance ag... | CIViC Evidence | Detail |
| Lentiviral-mediated overexpression of PRPS1 D183E in Reh cells resulted no difference in response to... | CIViC Evidence | 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
- chrX:107,645,193-107,645,195
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- D183E
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2920
- Variant (CIViC) (CIViC Variant)
- D183H
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2933
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