chr9:130878567:TG>GT Detail (hg38) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,753,954-133,753,955 View the variant detail on this assembly version. |
| hg38 | chr9:130,878,567-130,878,568 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.1423_1423+1delinsGT | NP_005148.2:p.Cys475ValfsTer8 |
| NM_007313.2:c.1480_1480+1delinsGT | NP_009297.2:p.Cys494ValfsTer8 | |
| Ensemble | ENST00000318560.6:c.1423_1423+1delinsGT | ENST00000318560.6:p.Cys475ValfsTer8 |
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 | Bosutinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 1 | 22371878 | Detail |
| chronic myeloid leukemia | Imatinib Mesylate | C |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 22371878 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretr... | CIViC Evidence | Detail |
| In a study of 39 chronic phase CML patients with BCR-ABL variants, C475V was seen in a single imatin... | 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
- chr9:130,878,567-130,878,568
- Variant Type
- snv
- Reference Allele
- TG
- Alternative Allele
- GT
- Variant (CIViC) (CIViC Variant)
- C475V
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1639
Genome browser