chr10:103097350:G>A Detail (hg38) (NT5C2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:104,857,107-104,857,107 View the variant detail on this assembly version. |
| hg38 | chr10:103,097,350-103,097,350 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001134373.2:c.712C>T | NP_001127845.1:p.Arg238Trp |
| NM_012229.4:c.712C>T | NP_036361.1:p.Arg238Trp | |
| Ensemble | ENST00000343289.9:c.712C>T | ENST00000343289.9:p.Arg238Trp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| childhood acute lymphocytic leukemia | Thioguanine,Mercaptopurine | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 23377183 | Detail |
| childhood acute lymphocytic leukemia | Gemcitabine,Prednisolone,Cytarabine,Doxorubicin | D |
Predictive
|
Does Not Support
|
Resistance | Somatic | 4 | 23377183 | Detail |
| childhood acute lymphocytic leukemia | C |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 2 | 23377183 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Lentiviral-mediated overexpression of NT5C2 R238W in Reh cells resulted in significant resistance ag... | CIViC Evidence | Detail |
| Overexpression of NT5C2 R238W in Reh cells resulted in no change in response to cytarabine, gemcitab... | CIViC Evidence | Detail |
| 71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samp... | 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
- chr10:103,097,350-103,097,350
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- R238W
- Transcript 1 (CIViC Variant)
- ENST00000343289.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2896
Genome browser