chr9:133437836:G>A Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,302,956-136,302,956 View the variant detail on this assembly version.
hg38 chr9:133,437,836-133,437,836

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1430G>A NP_620595.1:p.Cys477Tyr
NM_139025.4:c.1523G>A NP_620594.1:p.Cys508Tyr
NM_139027.4:c.1523G>A NP_620596.2:p.Cys508Tyr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic thrombotic microangiopathy not provided MGS000036
(TMGS000079)
Mariko Shiba
Koichi Kokame
National Cerebral and Cardiovascular Center
National Cerebral and Cardiovascular Center Research Institute
31698449
21781265
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-09-03 no assertion criteria provided Upshaw-Schulman syndrome germline Detail
not provided no assertion provided not provided not provided 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 Here, we report missense and nonsense mutations in two Japanese families with Up... UNIPROT 12181489 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A] AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.1523G>A (p.Cys508Tyr) AND not provided ClinVar Detail
NA DisGeNET Detail
Here, we report missense and nonsense mutations in two Japanese families with Upshaw-Schulman syndro... 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
rs281875305 dbSNP
Genome
hg38
Position
chr9:133,437,836-133,437,836
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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