chr9:133442447:A>T Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,307,568-136,307,568 View the variant detail on this assembly version.
hg38 chr9:133,442,447-133,442,447

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1924A>T NP_620595.1:p.Ile642Phe
NM_139025.4:c.2017A>T NP_620594.1:p.Ile673Phe
NM_139027.4:c.2017A>T NP_620596.2:p.Ile673Phe
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 tgv37876161 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic thrombotic microangiopathy germline MGS000036
(TMGS000079) 		Mariko Shiba
Koichi Kokame		 National Cerebral and Cardiovascular Center
National Cerebral and Cardiovascular Center Research Institute		 31698449
21781265
14563640
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
Likely pathogenic 2018-12-04 criteria provided, single submitter Upshaw-Schulman syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.453 Congenital Thrombotic Thrombocytopenic Purpura Molecular characterization of ADAMTS13 gene mutations in Japanese patients with ... UNIPROT 14563640 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) AND not provided ClinVar Detail
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) AND Upshaw-Schulman syndrome ClinVar Detail
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman synd... 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
rs281875307 dbSNP
Genome
hg38
Position
chr9:133,442,447-133,442,447
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1203
Mean of sample read depth (HGVD)
48.89
Standard deviation of sample read depth (HGVD)
23.30
Number of reference allele (HGVD)
2405
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1562759767248546E-4
Gene Symbol (HGVD)
ADAMTS13
Genome browser