chr9:133432639:T>A Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,297,760-136,297,760 View the variant detail on this assembly version.
hg38 chr9:133,432,639-133,432,639

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.946T>A NP_620595.1:p.Cys316Ser
NM_139025.4:c.1039T>A NP_620594.1:p.Cys347Ser
NM_139027.4:c.1039T>A NP_620596.2:p.Cys347Ser
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
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 Severely deficient activity of the von Willebrand Factor (VWF) cleaving metallop... UNIPROT 16807643 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.1039T>A (p.Cys347Ser) AND not provided ClinVar Detail
Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease, ADAMTS13, i... 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
rs281875294 dbSNP
Genome
hg38
Position
chr9:133,432,639-133,432,639
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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