chr9:133442704: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	chr9:136,307,825-136,307,825 View the variant detail on this assembly version.
hg38	chr9:133,442,704-133,442,704

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.2102C>T	NP_620595.1:p.Ala701Val
	NM_139025.4:c.2195C>T	NP_620594.1:p.Ala732Val
	NM_139027.4:c.2195C>T	NP_620596.2:p.Ala732Val
Ensemble	ENST00000355699.7:c.2195C>T	ENST00000355699.7:p.Ala732Val
	ENST00000356589.6:c.2102C>T	ENST00000356589.6:p.Ala701Val
	ENST00000371916.5:c.1225-2159C>T
	ENST00000371929.7:c.2195C>T	ENST00000371929.7:p.Ala732Val

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	Benign Likely benign
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	tgv37876209	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2024-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely benign	2022-01-07	criteria provided, single submitter	Upshaw-Schulman syndrome	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.227	Purpura, Thrombotic Thrombocytopenic	Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic...	BeFree	16160007	Detail

Annotation

Annotations

Descrption	Source	Links
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) AND not specified	ClinVar	Detail
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) AND not provided	ClinVar	Detail
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) AND Upshaw-Schulman syndrome	ClinVar	Detail
Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic pu...	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: rs41314453 dbSNP
Genome: hg38
Position: chr9:133,442,704-133,442,704
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8580
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): 119048
Allele Counts in All Race (ExAC): 1224
Heterozygous Counts in All Race (ExAC): 1202
Homozygous Counts in All Race (ExAC): 11
Allele Frequency in All Race (ExAC): 0.010281567098985284

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