chr9:133455402:C>T 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	chr9:136,320,524-136,320,524 View the variant detail on this assembly version.
hg38	chr9:133,455,402-133,455,402

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.3274C>T	NP_620595.1:p.Arg1092Cys
	NM_139025.4:c.3367C>T	NP_620594.1:p.Arg1123Cys
	NM_139027.4:c.3367C>T	NP_620596.2:p.Arg1123Cys
Ensemble	ENST00000355699.7:c.3367C>T	ENST00000355699.7:p.Arg1123Cys
	ENST00000356589.6:c.3274C>T	ENST00000356589.6:p.Arg1092Cys
	ENST00000371916.5:c.*836C>T
	ENST00000371929.7:c.3367C>T	ENST00000371929.7:p.Arg1123Cys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM1460817	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		thrombotic microangiopathy	germline	MGS000036 (TMGS000079)	Mariko Shiba Koichi Kokame	National Cerebral and Cardiovascular Center National Cerebral and Cardiovascular Center Research Institute	31698449 21781265 14563640

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-12-24	criteria provided, single submitter	not provided	germline 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.3367C>T (p.Arg1123Cys) 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: rs281875340 dbSNP
Genome: hg38
Position: chr9:133,455,402-133,455,402
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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