chr9:136313839:T>G Detail (hg19) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,313,839-136,313,839
hg38 chr9:133,448,718-133,448,718 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.2758T>G NP_620595.1:p.Cys920Gly
NM_139025.4:c.2851T>G NP_620594.1:p.Cys951Gly
NM_139027.4:c.2851T>G NP_620596.2:p.Cys951Gly
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 2001-10-04 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 We show that deficiency of ADAMTS13 is the molecular mechanism responsible for T... UNIPROT 11586351 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly) AND Upshaw-Schulman syndrome 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
rs121908468 dbSNP
Genome
hg19
Position
chr9:136,313,839-136,313,839
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser