chr9:136305530:C>G Detail (hg19) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,305,530-136,305,530
hg38 chr9:133,440,409-133,440,409 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1759C>G NP_620595.1:p.Pro587Ala
NM_139025.4:c.1852C>G NP_620594.1:p.Pro618Ala
NM_139027.4:c.1852C>G NP_620596.2:p.Pro618Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.024
ToMMo:0.025
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.018

Prediction

ClinVar

Clinical Significance Benign Likely 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 tgv37876064 TogoVar
COSMIC COSM4163495 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Upshaw-Schulman syndrome germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) AND not specified ClinVar Detail
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) AND Upshaw-Schulman syndrome ClinVar Detail
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) AND not provided ClinVar 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
rs28647808 dbSNP
Genome
hg19
Position
chr9:136,305,530-136,305,530
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1077
Mean of sample read depth (HGVD)
27.23
Standard deviation of sample read depth (HGVD)
15.61
Number of reference allele (HGVD)
2102
Number of alternative allele (HGVD)
52
Allele Frequency (HGVD)
0.02414113277623027
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))
rs28647808
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0252
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
422
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
159
East Asian Heterozygous Counts (ExAC)
159
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.01842837273991655
Chromosome Counts in All Race (ExAC)
120550
Allele Counts in All Race (ExAC)
7612
Heterozygous Counts in All Race (ExAC)
6922
Homozygous Counts in All Race (ExAC)
345
Allele Frequency in All Race (ExAC)
0.06314392368311904
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