chr9:130872913:GG>CT Detail (hg38) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,748,300-133,748,301 View the variant detail on this assembly version.
hg38 chr9:130,872,913-130,872,914

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.961_962delinsCT NP_005148.2:p.Gly321Leu
NM_007313.2:c.1018_1019delinsCT NP_009297.2:p.Gly340Leu
Ensemble ENST00000318560.6:c.961_962delinsCT ENST00000318560.6:p.Gly321Leu
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Imatinib Mesylate,Dasatinib D Predictive Supports Sensitivity/Response Somatic 3 26758680 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In this in vitro study, the H2110 non-small cell lung cancer cell line (heterozygous for a G340L mut... 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
chr9:130,872,913-130,872,914
Variant Type
snv
Reference Allele
GG
Alternative Allele
CT
Variant (CIViC) (CIViC Variant)
G340L
Transcript 1 (CIViC Variant)
ENST00000372348.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1657
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