chr9:133445787:C>G Detail (hg38) (ADAMTS13)

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

Genome

Assembly	Position
hg19	chr9:136,310,908-136,310,908 View the variant detail on this assembly version.
hg38	chr9:133,445,787-133,445,787

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.2606C>G	NP_620595.1:p.Ala869Gly
	NM_139025.4:c.2699C>G	NP_620594.1:p.Ala900Gly
	NM_139027.4:c.2699C>G	NP_620596.2:p.Ala900Gly
Ensemble	ENST00000355699.7:c.2699C>G	ENST00000355699.7:p.Ala900Gly
	ENST00000356589.6:c.2606C>G	ENST00000356589.6:p.Ala869Gly
	ENST00000371916.5:c.*168C>G
	ENST00000371929.7:c.2699C>G	ENST00000371929.7:p.Ala900Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

ADAMTS13

Type	Database	ID	Link
Gene	MIM	604134	OMIM
	HGNC	1366	HGNC
	Ensembl	ENSG00000160323	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv213214318	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.004	coronary artery disease	Based on related populations frequencies and functional studies, we tested three...	BeFree	19427680	Detail

Annotation

Annotations

Descrption	Source	Links
Based on related populations frequencies and functional studies, we tested three ADAMTS13 polymorphi...	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: -
Genome: hg38
Position: chr9:133,445,787-133,445,787
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8558
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1684973124561814E-4
Chromosome Counts in All Race (ExAC): 115078
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.68975825092546E-6

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