chr9:133442504:C>T Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,307,625-136,307,625 View the variant detail on this assembly version.
hg38 chr9:133,442,504-133,442,504

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1981C>T NP_620595.1:p.Arg661Cys
NM_139025.4:c.2074C>T NP_620594.1:p.Arg692Cys
NM_139027.4:c.2074C>T NP_620596.2:p.Arg692Cys
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
Show details
Links
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 tgv213214226 TogoVar
COSMIC COSM3788200 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-10-04 no assertion criteria provided Upshaw-Schulman syndrome germline Detail
Pathogenic 2023-10-26 criteria provided, single submitter 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 We show that deficiency of ADAMTS13 is the molecular mechanism responsible for T... UNIPROT 11586351 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys) AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys) AND not provided ClinVar Detail
NA DisGeNET Detail
We show that deficiency of ADAMTS13 is the molecular mechanism responsible for TTP, and suggest that... 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
rs121908475 dbSNP
Genome
hg38
Position
chr9:133,442,504-133,442,504
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1595547309833024E-4
Chromosome Counts in All Race (ExAC)
120704
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)
8.2847295864263E-6
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