chr9:136298597:C>T Detail (hg19) (ADAMTS13)

Information

Genome

Assembly Position
hg19 chr9:136,298,597-136,298,597
hg38 chr9:133,433,477-133,433,477 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_139026.4:c.1099C>T NP_620595.1:p.Arg367Cys
NM_139025.4:c.1192C>T NP_620594.1:p.Arg398Cys
NM_139027.4:c.1192C>T NP_620596.2:p.Arg398Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely pathogenic
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 tgv37875612 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic criteria provided, single submitter Upshaw-Schulman syndrome paternal 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.1192C>T (p.Arg398Cys) AND Upshaw-Schulman syndrome 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
rs376606652 dbSNP
Genome
hg19
Position
chr9:136,298,597-136,298,597
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
72.59
Standard deviation of sample read depth (HGVD)
34.61
Number of reference allele (HGVD)
2413
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1425020712510354E-4
Gene Symbol (HGVD)
ADAMTS13
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
120278
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.66281447978849E-5
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