chr9:130872902:T>G Detail (hg38) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,748,289-133,748,289 View the variant detail on this assembly version.
hg38 chr9:130,872,902-130,872,902

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.950T>G NP_005148.2:p.Phe317Cys
NM_007313.2:c.1007T>G NP_009297.2:p.Phe336Cys
Ensemble ENST00000318560.6:c.950T>G ENST00000318560.6:p.Phe317Cys
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
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 Dasatinib D Predictive Supports Resistance Somatic 2 16772610 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
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.950T>G (p.Phe317Cys) 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
rs1057519774 dbSNP
Genome
hg38
Position
chr9:130,872,902-130,872,902
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
BCR-ABL F317C
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2359
Genome browser