chr9:133443517:AGCTGTGGCGCTGGAAACCTGCAACC> Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,308,638-136,308,663 
hg38 chr9:133,443,517-133,443,542

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.2283_2308delAGCTGTGGCGCTGGAAACCTGCAACC NP_620595.1:p.Ala762ProfsTer43
NM_139025.4:c.2376_2401delAGCTGTGGCGCTGGAAACCTGCAACC NP_620594.1:p.Ala793ProfsTer43
NM_139027.4:c.2376_2401delAGCTGTGGCGCTGGAAACCTGCAACC NP_620596.2:p.Ala793ProfsTer43
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
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.2376_2401del (p.Ala793fs) 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
rs387906342 dbSNP
Genome
hg38
Position
chr9:133,443,517-133,443,542
Variant Type
snv
Reference Allele
AGCTGTGGCGCTGGAAACCTGCAACC
Alternative Allele
-
Genome browser