chr9:136302063:C>T Detail (hg19) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,302,063-136,302,063
hg38 chr9:133,436,943-133,436,943 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1330C>T NP_620595.1:p.Pro444Ser
NM_139025.4:c.1423C>T NP_620594.1:p.Pro475Ser
NM_139027.4:c.1423C>T NP_620596.2:p.Pro475Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.051
ToMMo:0.058
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.025

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 tgv37875826 TogoVar
COSMIC COSM1739556 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2019-05-28 criteria provided, multiple submitters, no conflicts Upshaw-Schulman syndrome germline unknown Detail
Likely benign criteria provided, single submitter not specified germline Detail
Conflicting interpretations of pathogenicity 2024-01-22 criteria provided, conflicting interpretations not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.019 Purpura, Thrombotic Thrombocytopenic The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to ... BeFree 23621748 Detail
0.453 Congenital Thrombotic Thrombocytopenic Purpura NA CLINVAR Detail
0.227 Purpura, Thrombotic Thrombocytopenic The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to ... BeFree 23621748 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) AND not specified ClinVar Detail
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) AND not provided ClinVar Detail
The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic t... DisGeNET Detail
NA DisGeNET Detail
The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic t... 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
rs11575933 dbSNP
Genome
hg19
Position
chr9:136,302,063-136,302,063
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1188
Mean of sample read depth (HGVD)
52.24
Standard deviation of sample read depth (HGVD)
24.87
Number of reference allele (HGVD)
2255
Number of alternative allele (HGVD)
121
Allele Frequency (HGVD)
0.05092592592592592
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))
rs11575933
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0582
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
975
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
4614
East Asian Allele Counts (ExAC)
117
East Asian Heterozygous Counts (ExAC)
117
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.025357607282184655
Chromosome Counts in All Race (ExAC)
52912
Allele Counts in All Race (ExAC)
388
Heterozygous Counts in All Race (ExAC)
380
Homozygous Counts in All Race (ExAC)
4
Allele Frequency in All Race (ExAC)
0.0073329301481705475
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