chr9:133439443:TT> Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,304,564-136,304,565 
hg38 chr9:133,439,443-133,439,444

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1690_1691delTT NP_620595.1:p.Leu564GlyfsTer19
NM_139025.4:c.1783_1784delTT NP_620594.1:p.Leu595GlyfsTer19
NM_139027.4:c.1783_1784delTT NP_620596.2:p.Leu595GlyfsTer19
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 2003-06-01 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
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.1783_1784del (p.Leu595fs) AND Upshaw-Schulman syndrome ClinVar Detail
NA 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
rs387906344 dbSNP
Genome
hg38
Position
chr9:133,439,443-133,439,444
Variant Type
snv
Reference Allele
TT
Alternative Allele
-
Genome browser