chr9:133458023:C>T Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,323,145-136,323,145 View the variant detail on this assembly version.
hg38 chr9:133,458,023-133,458,023

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.3745C>T NP_620595.1:p.Arg1249Trp
NM_139025.4:c.4006C>T NP_620594.1:p.Arg1336Trp
NM_139027.4:c.4006C>T NP_620596.2:p.Arg1336Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance not provided
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 tgv37877170 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic thrombotic microangiopathy not provided MGS000036
(TMGS000079) 		Mariko Shiba
Koichi Kokame		 National Cerebral and Cardiovascular Center
National Cerebral and Cardiovascular Center Research Institute		 30792199
30471945
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.227 Purpura, Thrombotic Thrombocytopenic Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic... BeFree 16160007 Detail
0.453 Congenital Thrombotic Thrombocytopenic Purpura Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic... UNIPROT 16160007 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.3838C>T (p.Arg1280Trp) AND not provided ClinVar Detail
Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic pu... DisGeNET Detail
Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic pu... 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
rs281875308 dbSNP
Genome
hg38
Position
chr9:133,458,023-133,458,023
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1134
Mean of sample read depth (HGVD)
28.29
Standard deviation of sample read depth (HGVD)
12.72
Number of reference allele (HGVD)
2267
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.409171075837742E-4
Gene Symbol (HGVD)
ADAMTS13
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs281875308
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120076
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.328058896032513E-6
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