chr9:133750356:A>C Detail (hg19) (ABL1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:133,750,356-133,750,356 |
hg38 | chr9:130,874,969-130,874,969 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005157.5:c.1187A>C | NP_005148.2:p.His396Pro |
NM_007313.2:c.1244A>C | NP_009297.2:p.His415Pro | |
Ensemble | ENST00000318560.6:c.1187A>C | ENST00000318560.6:p.His396Pro |
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 |
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Resistance | Somatic | 2 | 21865346 | Detail |
chronic myeloid leukemia | Imatinib Mesylate,Nilotinib | D |
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Resistance | Somatic | 2 | 16772610 | Detail |
chronic myeloid leukemia | Axitinib | D |
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Resistance | Somatic | 2 | 25686603 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... | CIViC Evidence | Detail |
In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expresse... | CIViC Evidence | Detail |
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | 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
- chr9:133,750,356-133,750,356
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- BCR-ABL H396P
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1531
Genome browser