chr9:133588430:> Detail (hg19) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,588,430-133,763,062 |
| hg38 | chr9:130,713,043-130,887,675 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| chronic myeloid leukemia | Dasatinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 16775234 | Detail |
| chronic myeloid leukemia | Dasatinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 16775234 | Detail |
| chronic myeloid leukemia | Bosutinib | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 21865346 | Detail |
| chronic myeloid leukemia | Bosutinib | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 21865346 | Detail |
| chronic myeloid leukemia | Bosutinib | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 2 | 22371878 | Detail |
| chronic myeloid leukemia | Bosutinib | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 22371878 | Detail |
| chronic myeloid leukemia | Axitinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 25686603 | Detail |
| chronic myeloid leukemia | Axitinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 25686603 | Detail |
| chronic myeloid leukemia | Axitinib | D |
Predictive
|
Does Not Support
|
Resistance | Somatic | 2 | 25686603 | Detail |
| chronic myeloid leukemia | Axitinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 25686603 | Detail |
| chronic myeloid leukemia | Axitinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 25686603 | Detail |
| chronic myeloid leukemia | Ponatinib,Dasatinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 25686603 | Detail |
| chronic myeloid leukemia | Imatinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 16775234 | Detail |
| chronic myeloid leukemia | Imatinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 16775234 | Detail |
| chronic myeloid leukemia | Dasatinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 4 | 16775234 | Detail |
| chronic myeloid leukemia | Imatinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 12623848 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chroni... | CIViC Evidence | Detail |
| Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chroni... | CIViC Evidence | Detail |
| In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... | CIViC Evidence | Detail |
| In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... | CIViC Evidence | Detail |
| This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretr... | CIViC Evidence | Detail |
| This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretr... | CIViC Evidence | Detail |
| In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | CIViC Evidence | Detail |
| In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | CIViC Evidence | Detail |
| In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | CIViC Evidence | Detail |
| In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | CIViC Evidence | Detail |
| In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | CIViC Evidence | Detail |
| Bone marrow mononuclear cells isolated from a chronic myeloid leukemia patient with the BCR-ABL1 fus... | CIViC Evidence | Detail |
| One chronic myeloid leukemia patient in chronic phase had a partial best cytogenetic response to ima... | CIViC Evidence | Detail |
| One chronic myeloid leukemia patient in chronic phase had a complete best cytogenetic response to im... | CIViC Evidence | Detail |
| Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chroni... | CIViC Evidence | Detail |
| In this study, patients on imatinib monotherapy were monitored for ABL1 kinase domain variants in BC... | 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
- chr9:133,588,430-133,763,062
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- BCR-ABL F311V
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2358
- Variant (CIViC) (CIViC Variant)
- P-Loop Mutation
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2375
- Variant (CIViC) (CIViC Variant)
- Non-P-Loop Mutation
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2376
- Variant (CIViC) (CIViC Variant)
- ABL1 fusions
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2566
- Variant (CIViC) (CIViC Variant)
- BCR-ABL T315V
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2885
- Variant (CIViC) (CIViC Variant)
- BCR-ABL E279K
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2886
- Variant (CIViC) (CIViC Variant)
- BCR-ABL E292L
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2887
- Variant (CIViC) (CIViC Variant)
- BCR-ABL F317R
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2888
- Variant (CIViC) (CIViC Variant)
- BCR-ABL L248R F359I
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2889
- Variant (CIViC) (CIViC Variant)
- BCR-ABL E255K V299L
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2890
- Variant (CIViC) (CIViC Variant)
- BCR-ABL D363G
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2900
- Variant (CIViC) (CIViC Variant)
- BCR-ABL E98G
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2901
- Variant (CIViC) (CIViC Variant)
- BCR-ABL L364I
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2902
- Variant (CIViC) (CIViC Variant)
- BCR-ABL V186A
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2903
- Variant (CIViC) (CIViC Variant)
- BCR-ABL Y253F
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2909
- Variant (CIViC) (CIViC Variant)
- BCR-ABL Q252H
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2910
- Variant (CIViC) (CIViC Variant)
- BCR-ABL E450Q
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2948
- Variant (CIViC) (CIViC Variant)
- BCR-ABL M244V/L364I
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2949
- Variant (CIViC) (CIViC Variant)
- BCR-ABL N49S
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2950
- Variant (CIViC) (CIViC Variant)
- BCR-ABL N146S
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2951
- Variant (CIViC) (CIViC Variant)
- BCR-ABL V298I
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2952
- Variant (CIViC) (CIViC Variant)
- BCR-ABL S438C
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2953
- Variant (CIViC) (CIViC Variant)
- BCR-ABL M388L
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2954
- Variant (CIViC) (CIViC Variant)
- Double Ph
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/3009
- Variant (CIViC) (CIViC Variant)
- K356dup
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/3010
Genome browser