chr9:136293870:G>C Detail (hg19) (ADAMTS13, LOC130002910)

Information

Genome

Assembly Position
hg19 chr9:136,293,870-136,293,870
hg38 chr9:133,428,750-133,428,750 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.803G>C NP_620595.1:p.Arg268Pro
NM_139025.4:c.803G>C NP_620594.1:p.Arg268Pro
NM_139027.4:c.803G>C NP_620596.2:p.Arg268Pro
Summary

MGeND

Clinical significance
Variant entry
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-09-03 no assertion criteria provided Upshaw-Schulman syndrome 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 Ten candidate ADAMTS13 mutations in six French families with congenital thrombot... UNIPROT 15009458 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro) AND Upshaw-Schulman syndrome ClinVar Detail
NA DisGeNET 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
rs121908477 dbSNP
Genome
hg19
Position
chr9:136,293,870-136,293,870
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser