chr9:130872895:A>G Detail (hg38) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,748,282-133,748,282 View the variant detail on this assembly version. |
| hg38 | chr9:130,872,895-130,872,895 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.943A>G | NP_005148.2:p.Thr315Ala |
| NM_007313.2:c.1000A>G | NP_009297.2:p.Thr334Ala | |
| Ensemble | ENST00000318560.6:c.943A>G | ENST00000318560.6:p.Thr315Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-12-26 | no assertion criteria provided | chronic myelogenous leukemia, BCR-ABL1 positive |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| chronic myeloid leukemia | Dasatinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 15705718 | Detail |
| chronic myeloid leukemia | Axitinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 25686603 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In an in vitro study, stochastic mutations in the ABL1 region of a stably expressed p210 BCR-ABL fus... | CIViC Evidence | Detail |
| In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | CIViC Evidence | Detail |
| NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) AND Chronic myelogenous leukemia, BCR-ABL1 positive | ClinVar | 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
- -
- dbSNP
- rs1057519772 dbSNP
- Genome
- hg38
- Position
- chr9:130,872,895-130,872,895
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- BCR-ABL T315A
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2335
Genome browser