chr9:133442676:C>A Detail (hg38) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,307,797-136,307,797 View the variant detail on this assembly version.
hg38 chr9:133,442,676-133,442,676

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.2074C>A NP_620595.1:p.Gln692Lys
NM_139025.4:c.2167C>A NP_620594.1:p.Gln723Lys
NM_139027.4:c.2167C>A NP_620596.2:p.Gln723Lys
Summary

MGeND

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

Frequency

JP HGVD:0.010
ToMMo:0.010
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv37876205 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		 31698449
23188471
21781265
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2017-04-27 criteria provided, conflicting interpretations Upshaw-Schulman syndrome germline Detail
Uncertain significance 2022-04-13 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.453 Congenital Thrombotic Thrombocytopenic Purpura Analyses of the ADAMTS13 genes in USS-CC5 and USS-HH4 revealed compound heterozy... BeFree 23188471 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) AND not provided ClinVar Detail
Analyses of the ADAMTS13 genes in USS-CC5 and USS-HH4 revealed compound heterozygotes of p.R398C/p.Q... 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
rs138014548 dbSNP
Genome
hg38
Position
chr9:133,442,676-133,442,676
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1138
Mean of sample read depth (HGVD)
27.73
Standard deviation of sample read depth (HGVD)
12.89
Number of reference allele (HGVD)
2253
Number of alternative allele (HGVD)
23
Allele Frequency (HGVD)
0.010105448154657293
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))
rs138014548
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0104
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
175
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8580
East Asian Allele Counts (ExAC)
18
East Asian Heterozygous Counts (ExAC)
18
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.002097902097902098
Chromosome Counts in All Race (ExAC)
119508
Allele Counts in All Race (ExAC)
18
Heterozygous Counts in All Race (ExAC)
18
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.506175318807109E-4
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