chr9:130872133:A>G Detail (hg38) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,747,520-133,747,520 View the variant detail on this assembly version. |
| hg38 | chr9:130,872,133-130,872,133 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.827A>G | NP_005148.2:p.Asp276Gly |
| NM_007313.2:c.884A>G | NP_009297.2:p.Asp295Gly | |
| Ensemble | ENST00000318560.6:c.827A>G | ENST00000318560.6:p.Asp276Gly |
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 | Imatinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 19075254 | Detail |
| chronic myeloid leukemia | Nilotinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 19075254 | Detail |
| chronic myeloid leukemia | Bosutinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 1 | 21865346 | Detail |
| chronic myeloid leukemia | Dasatinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 19779040 | Detail |
| chronic myeloid leukemia | Axitinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 25686603 | Detail |
| chronic myeloid leukemia | Imatinib Mesylate | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 16772610 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A panel of 18 mutations representing 85% of known mutations seen in imatinib CML patents were used t... | CIViC Evidence | Detail |
| In an in vitro study, a Ba/F3 cell line stably expressing the D276G mutation in the ABL1 portion of... | CIViC Evidence | Detail |
| In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... | CIViC Evidence | Detail |
| This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myel... | CIViC Evidence | Detail |
| In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | CIViC Evidence | Detail |
| In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expresse... | 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
- chr9:130,872,133-130,872,133
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- BCR-ABL D276G
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1027
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