chr9:133748288:T>G Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,748,288-133,748,288
hg38 chr9:130,872,901-130,872,901 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.949T>G NP_005148.2:p.Phe317Val
NM_007313.2:c.1006T>G NP_009297.2:p.Phe336Val
Ensemble ENST00000318560.6:c.949T>G ENST00000318560.6:p.Phe317Val
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
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 COSM211607 COSMIC
MONDO
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 Axitinib D Predictive Supports Resistance Somatic 2 25686603 Detail
chronic myeloid leukemia Dasatinib D Predictive Supports Resistance Somatic 3 15705718 Detail
chronic myeloid leukemia Dasatinib D Predictive Supports Resistance Somatic 2 16772610 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... CIViC Evidence Detail
In an in vitro study, stochastic mutations in the ABL1 region of a stably expressed p210 BCR-ABL fus... CIViC Evidence Detail
In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expresse... CIViC Evidence Detail
NM_005157.6(ABL1):c.949T>G (p.Phe317Val) 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
rs1057519773 dbSNP
Genome
hg19
Position
chr9:133,748,288-133,748,288
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
BCR-ABL F317V
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1525
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