chr9:130862919:G>A Detail (hg38) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,738,306-133,738,306 View the variant detail on this assembly version.
hg38 chr9:130,862,919-130,862,919

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.706G>A NP_005148.2:p.Glu236Lys
NM_007313.2:c.763G>A NP_009297.2:p.Glu255Lys
Ensemble ENST00000318560.6:c.706G>A ENST00000318560.6:p.Glu236Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-07-15 no assertion criteria provided Leukemia, Philadelphia chromosome-positive, resistant to imatinib germline Detail
Likely pathogenic 2014-12-26 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

DescrptionSourceLinks
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) AND Leukemia, Philadelphia chromosome-positive, resistant t... ClinVar Detail
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) 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
rs387906517 dbSNP
Genome
hg38
Position
chr9:130,862,919-130,862,919
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser