chr9:133753906:G>A Detail (hg19) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,753,906-133,753,906 |
| hg38 | chr9:130,878,519-130,878,519 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.1375G>A | NP_005148.2:p.Glu459Lys |
| NM_007313.2:c.1432G>A | NP_009297.2:p.Glu478Lys | |
| Ensemble | ENST00000318560.6:c.1375G>A | ENST00000318560.6:p.Glu459Lys |
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 |
|---|---|---|---|---|---|---|---|---|---|
| chronic myeloid leukemia | Dasatinib | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 19779040 | Detail |
| chronic myeloid leukemia | Dasatinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 1 | 17264298 | Detail |
| chronic myeloid leukemia | Imatinib Mesylate | C |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 17264298 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myel... | CIViC Evidence | Detail |
| In this phase II multinational study, patients with accelerated phase CML and BCR-ABL fusions were t... | CIViC Evidence | Detail |
| In a phase II study of 60 imatinib-resistant patients with BCR-ABL mutations, 3 had E459K mutations | 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
- hg19
- Position
- chr9:133,753,906-133,753,906
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- BCR-ABL E459K
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2370
Genome browser