chr9:130862971:A>T 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	chr9:133,738,358-133,738,358 View the variant detail on this assembly version.
hg38	chr9:130,862,971-130,862,971

HGVS

ABL1

Type	Transcript	Protein
RefSeq	NM_005157.5:c.758A>T	NP_005148.2:p.Tyr253Phe
	NM_007313.2:c.815A>T	NP_009297.2:p.Tyr272Phe
Ensemble	ENST00000318560.6:c.758A>T	ENST00000318560.6:p.Tyr253Phe
	ENST00000372348.9:c.815A>T	ENST00000372348.9:p.Tyr272Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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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	COSM12610	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-07-14	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	Imatinib	D	Predictive	Supports	Resistance	Somatic	2	19075254	Detail
chronic myeloid leukemia	Imatinib	C	Predictive	Supports	Resistance	Somatic		15930265	Detail
chronic myeloid leukemia	Bosutinib	C	Predictive	Does Not Support	Resistance	Somatic	1	21865346	Detail
chronic myeloid leukemia	Axitinib	D	Predictive	Supports	Resistance	Somatic	2	25686603	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.007	Philadelphia chromosome positive chronic myelogenous leukemia	Here we show that in vivo application of targeted nonvirally delivered synthetic...	BeFree	19301661	Detail

Annotation

Annotations

Descrption	Source	Links
A panel of 18 mutations representing 85% of known mutations seen in imatinib CML patents were used t...	CIViC Evidence	Detail
In two cell-based studies, a panel of either 18 or 16 mutations representing 85% of known mutations ...	CIViC Evidence	Detail
In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ...	CIViC Evidence	Detail
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba...	CIViC Evidence	Detail
NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) AND Chronic myelogenous leukemia, BCR-ABL1 positive	ClinVar	Detail
Here we show that in vivo application of targeted nonvirally delivered synthetic bcr-abl siRNA in a ...	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: rs121913460 dbSNP
Genome: hg38
Position: chr9:130,862,971-130,862,971
Variant Type: snv
Reference Allele: A
Alternative Allele: T
Variant (CIViC) (CIViC Variant): Y253F
Transcript 1 (CIViC Variant): ENST00000318560.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1026

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