chr9:136301982:C>G Detail (hg19) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,301,982-136,301,982
hg38 chr9:133,436,862-133,436,862 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1249C>G NP_620595.1:p.Gln417Glu
NM_139025.4:c.1342C>G NP_620594.1:p.Gln448Glu
NM_139027.4:c.1342C>G NP_620596.2:p.Gln448Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.193
ToMMo:0.194
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.250

Prediction

ClinVar

Clinical Significance Benign
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 tgv37875798 TogoVar
COSMIC COSM3763721 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-09-03 no assertion criteria provided Upshaw-Schulman syndrome germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign 2021-08-16 criteria provided, multiple submitters, no conflicts Upshaw-Schulman syndrome unknown germline Detail
Benign 2024-01-31 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 NA CLINVAR Detail
0.004 coronary artery disease Based on related populations frequencies and functional studies, we tested three... BeFree 19427680 Detail
0.227 Purpura, Thrombotic Thrombocytopenic Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic... BeFree 16160007 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A] AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) AND not specified ClinVar Detail
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) AND not provided ClinVar Detail
NA DisGeNET Detail
Based on related populations frequencies and functional studies, we tested three ADAMTS13 polymorphi... 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
rs281875305 dbSNP
Genome
hg19
Position
chr9:136,301,982-136,301,982
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1198
Mean of sample read depth (HGVD)
76.22
Standard deviation of sample read depth (HGVD)
37.79
Number of reference allele (HGVD)
1934
Number of alternative allele (HGVD)
462
Allele Frequency (HGVD)
0.19282136894824708
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))
rs2301612
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1944
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3258
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
4230
East Asian Allele Counts (ExAC)
1059
East Asian Heterozygous Counts (ExAC)
897
East Asian Homozygous Counts (ExAC)
81
East Asian Allele Frequency (ExAC)
0.250354609929078
Chromosome Counts in All Race (ExAC)
60658
Allele Counts in All Race (ExAC)
27479
Heterozygous Counts in All Race (ExAC)
16727
Homozygous Counts in All Race (ExAC)
5376
Allele Frequency in All Race (ExAC)
0.45301526591710906
Genome browser