chr9:136321277:C>T Detail (hg19) (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	chr9:136,321,277-136,321,277
hg38	chr9:133,456,155-133,456,155 View the variant detail on this assembly version.

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.3394C>T	NP_620595.1:p.Arg1132Trp
	NM_139025.4:c.3655C>T	NP_620594.1:p.Arg1219Trp
	NM_139027.4:c.3655C>T	NP_620596.2:p.Arg1219Trp
Ensemble	ENST00000355699.7:c.3487C>T	ENST00000355699.7:p.Arg1163Trp
	ENST00000356589.6:c.3394C>T	ENST00000356589.6:p.Arg1132Trp
	ENST00000371910.1:c.43C>T	ENST00000371910.1:p.Arg15Trp
	ENST00000371916.5:c.*956C>T
	ENST00000371929.7:c.3655C>T	ENST00000371929.7:p.Arg1219Trp

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	not provided
Review star
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
	COSMIC	COSM1742694	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.453	Congenital Thrombotic Thrombocytopenic Purpura	We investigated the spectrum of ADAMTS13 gene mutations in patients with TTP and...	UNIPROT	17003922	Detail

Annotation

Annotations

Descrption	Source	Links
NM_139027.6(ADAMTS13):c.3487C>T (p.Arg1163Trp) AND not provided	ClinVar	Detail
We investigated the spectrum of ADAMTS13 gene mutations in patients with TTP and congenital ADAMTS13...	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: rs281875339 dbSNP
Genome: hg19
Position: chr9:136,321,277-136,321,277
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8622
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120340
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): 8.309788931361144E-6

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