chr9:133440344:C>T Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,305,465-136,305,465 View the variant detail on this assembly version.
hg38 chr9:133,440,344-133,440,344

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1694C>T NP_620595.1:p.Ala565Val
NM_139025.4:c.1787C>T NP_620594.1:p.Ala596Val
NM_139027.4:c.1787C>T NP_620596.2:p.Ala596Val
Summary

MGeND

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

Frequency

[No Data.]

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
COSMIC COSM3905298 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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-04-12 criteria provided, single submitter not provided germline not provided Detail
Pathogenic 2019-02-01 criteria provided, single submitter thrombotic thrombocytopenic purpura unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.453 Congenital Thrombotic Thrombocytopenic Purpura Ten candidate ADAMTS13 mutations in six French families with congenital thrombot... UNIPROT 15009458 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) AND not provided ClinVar Detail
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) AND Thrombotic thrombocytopenic purpura ClinVar Detail
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic ... 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
rs281875299 dbSNP
Genome
hg38
Position
chr9:133,440,344-133,440,344
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser