chr9:136310932:G>A Detail (hg19) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,310,932-136,310,932
hg38 chr9:133,445,811-133,445,811 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.2630G>A NP_620595.1:p.Cys877Tyr
NM_139025.4:c.2723G>A NP_620594.1:p.Cys908Tyr
NM_139027.4:c.2723G>A NP_620596.2:p.Cys908Tyr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
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 tgv37876434 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
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
0.453 Congenital Thrombotic Thrombocytopenic Purpura Ten candidate ADAMTS13 mutations in six French families with congenital thrombot... UNIPROT 15009458 Detail
0.453 Congenital Thrombotic Thrombocytopenic Purpura Molecular characterization of ADAMTS13 gene mutations in Japanese patients with ... UNIPROT 14563640 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139027.6(ADAMTS13):c.2723G>A (p.Cys908Tyr) AND not provided ClinVar Detail
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic ... DisGeNET Detail
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman synd... 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
rs281875301 dbSNP
Genome
hg19
Position
chr9:136,310,932-136,310,932
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs281875301
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)
8514
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1745360582569885E-4
Chromosome Counts in All Race (ExAC)
112026
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)
8.926499205541571E-6
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