chr9:133426246: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	chr9:136,291,366-136,291,366 View the variant detail on this assembly version.
hg38	chr9:133,426,246-133,426,246

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.587C>T	NP_620595.1:p.Thr196Ile
	NM_139025.4:c.587C>T	NP_620594.1:p.Thr196Ile
	NM_139027.4:c.587C>T	NP_620596.2:p.Thr196Ile
Ensemble	ENST00000355699.7:c.587C>T	ENST00000355699.7:p.Thr196Ile
	ENST00000356589.6:c.587C>T	ENST00000356589.6:p.Thr196Ile
	ENST00000371911.7:c.587C>T	ENST00000371911.7:p.Thr196Ile
	ENST00000371916.5:c.-158C>T
	ENST00000371929.7:c.587C>T	ENST00000371929.7:p.Thr196Ile

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	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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-12-03	criteria provided, single submitter	Upshaw-Schulman syndrome	germline unknown	Detail
Pathogenic	2021-10-25	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.453	Congenital Thrombotic Thrombocytopenic Purpura	NA	CLINVAR		Detail
0.453	Congenital Thrombotic Thrombocytopenic Purpura	Severely deficient activity of the von Willebrand Factor (VWF) cleaving metallop...	UNIPROT	16807643	Detail

Annotation

Annotations

Descrption	Source	Links
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) AND Upshaw-Schulman syndrome	ClinVar	Detail
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease, ADAMTS13, i...	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: rs121908470 dbSNP
Genome: hg38
Position: chr9:133,426,246-133,426,246
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8632
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): 120896
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6543144520910536E-5

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