chr9:130862976:G>A Detail (hg38) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,738,363-133,738,363 View the variant detail on this assembly version. |
| hg38 | chr9:130,862,976-130,862,976 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.763G>A | NP_005148.2:p.Glu255Lys |
| NM_007313.2:c.820G>A | NP_009297.2:p.Glu274Lys | |
| Ensemble | ENST00000318560.6:c.763G>A | ENST00000318560.6:p.Glu255Lys |
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
|
2015-07-14 | no assertion criteria provided | chronic myelogenous leukemia, BCR-ABL1 positive |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.089 | leukemia | The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leu... | BeFree | 15194504 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Rottlerin also enhanced the cytotoxic effect of imatinib in leukemic cells from ... | BeFree | 17130834 | Detail |
| 0.020 | Philadelphia chromosome-positive acute lymphoblastic leukemia | Presence of the BCR-ABL mutation Glu255Lys prior to STI571 (imatinib) treatment ... | BeFree | 12663457 | Detail |
| 0.020 | Philadelphia chromosome-positive acute lymphoblastic leukemia | Rottlerin also enhanced the cytotoxic effect of imatinib in leukemic cells from ... | BeFree | 17130834 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) AND Chronic myelogenous leukemia, BCR-ABL1 positive | ClinVar | Detail |
| The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leukemias is mostly ass... | DisGeNET | Detail |
| Rottlerin also enhanced the cytotoxic effect of imatinib in leukemic cells from patients with CML bl... | DisGeNET | Detail |
| Presence of the BCR-ABL mutation Glu255Lys prior to STI571 (imatinib) treatment in patients with Ph+... | DisGeNET | Detail |
| Rottlerin also enhanced the cytotoxic effect of imatinib in leukemic cells from patients with CML bl... | DisGeNET | 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
- rs121913448 dbSNP
- Genome
- hg38
- Position
- chr9:130,862,976-130,862,976
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser