chr9:133747528:G>A Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,747,528-133,747,528
hg38 chr9:130,872,141-130,872,141 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.835G>A NP_005148.2:p.Glu279Lys
NM_007313.2:c.892G>A NP_009297.2:p.Glu298Lys
Ensemble ENST00000318560.6:c.835G>A ENST00000318560.6:p.Glu279Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 189980 OMIM
HGNC 76 HGNC
Ensembl ENSG00000097007 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM49073 COSMIC
MONDO
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 19779040 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myel... 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
chr9:133,747,528-133,747,528
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
E279K
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1526
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