chr9:133437895:A>G Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,303,015-136,303,015 View the variant detail on this assembly version.
hg38 chr9:133,437,895-133,437,895

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1489A>G NP_620595.1:p.Arg497Gly
NM_139025.4:c.1582A>G NP_620594.1:p.Arg528Gly
NM_139027.4:c.1582A>G NP_620596.2:p.Arg528Gly
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 Uncertain significance
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 2001-10-04 no assertion criteria provided Upshaw-Schulman syndrome germline Detail
Uncertain significance 2022-11-11 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.1582A>G (p.Arg528Gly) AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly) 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
rs121908473 dbSNP
Genome
hg38
Position
chr9:133,437,895-133,437,895
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1571395510298542E-4
Chromosome Counts in All Race (ExAC)
120498
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)
8.298892927683448E-6
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