ASS1 LOSS Detail (hg38) (ASS1)

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

Genome

Assembly	Position
hg19	chr9:133,320,348-133,376,661 View the variant detail on this assembly version.
hg38	chr9:130,444,961-130,501,274

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

Type	Database	ID	Link
Gene	MIM
	HGNC
	Ensembl
	NCBI
	Gene Cards
	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
sarcoma	Pegargiminase,Chloroquine	D	Predictive	Supports	Sensitivity/Response	Somatic	3	27735949	Detail
ovarian cancer	Platinum Compound	D	Predictive	Supports	Resistance	Somatic	3	19533750	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
90% out of 700 sarcoma samples (comprising 45 histologies) demonstrated loss or reduction of arginin...	CIViC Evidence	Detail
Preclinical evidence for epigenetic inactivation of ASS1 as a determinant of response to platinum ch...	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: chr9:130,444,961-130,501,274
Variant Type: cnv
Variant (CIViC) (CIViC Variant): LOSS
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/2230

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