chr9:130862956:T>G Detail (hg38) (ABL1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr9:133,738,343-133,738,343 View the variant detail on this assembly version.
hg38	chr9:130,862,956-130,862,956

HGVS

ABL1

Type	Transcript	Protein
RefSeq	NM_005157.5:c.743T>G	NP_005148.2:p.Leu248Arg
	NM_007313.2:c.800T>G	NP_009297.2:p.Leu267Arg
Ensemble	ENST00000318560.6:c.743T>G	ENST00000318560.6:p.Leu248Arg
	ENST00000372348.9:c.800T>G	ENST00000372348.9:p.Leu267Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

ABL1

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	COSM4767370	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	Imatinib Mesylate,Dasatinib	D	Predictive	Supports	Resistance	Somatic	3	15705718	Detail
chronic myeloid leukemia	Imatinib Mesylate	D	Predictive	Supports	Resistance	Somatic	2	16772610	Detail
chronic myeloid leukemia	Axitinib	D	Predictive	Supports	Resistance	Somatic	2	25686603	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
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
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba...	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: chr9:130,862,956-130,862,956
Variant Type: snv
Reference Allele: T
Alternative Allele: G
Variant (CIViC) (CIViC Variant): BCR-ABL L248R
Transcript 1 (CIViC Variant): ENST00000318560.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/2340

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