chr9:136319670:C>T Detail (hg19) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,319,670-136,319,670
hg38 chr9:133,454,548-133,454,548 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.3085C>T NP_620595.1:p.Arg1029Trp
NM_139025.4:c.3178C>T NP_620594.1:p.Arg1060Trp
NM_139027.4:c.3178C>T NP_620596.2:p.Arg1060Trp
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 Likely 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-12-06 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic Likely pathogenic 2023-08-16 criteria provided, multiple submitters, no conflicts Upshaw-Schulman syndrome germline unknown Detail
Pathogenic 2022-11-15 criteria provided, single submitter thrombotic thrombocytopenic purpura germline Detail
Pathogenic 2023-12-27 criteria provided, single submitter ADAMTS13-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.227 Purpura, Thrombotic Thrombocytopenic Low incidence of ADAMTS13 missense mutation R1060W in adult Egyptian patients wi... BeFree 24401653 Detail
0.227 Purpura, Thrombotic Thrombocytopenic Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombo... BeFree 18031293 Detail
0.453 Congenital Thrombotic Thrombocytopenic Purpura We investigated the spectrum of ADAMTS13 gene mutations in patients with TTP and... UNIPROT 17003922 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) AND not provided ClinVar Detail
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) AND Thrombotic thrombocytopenic purpura ClinVar Detail
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) AND ADAMTS13-related disorder ClinVar Detail
Low incidence of ADAMTS13 missense mutation R1060W in adult Egyptian patients with thrombotic thromb... DisGeNET Detail
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic... DisGeNET 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
rs142572218 dbSNP
Genome
hg19
Position
chr9:136,319,670-136,319,670
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8410
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)
116600
Allele Counts in All Race (ExAC)
111
Heterozygous Counts in All Race (ExAC)
111
Allele Frequency in All Race (ExAC)
9.519725557461407E-4
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