chr9:133433477:C>T Detail (hg38) (ADAMTS13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:136,298,597-136,298,597 View the variant detail on this assembly version. |
| hg38 | chr9:133,433,477-133,433,477 |
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 |
Pathogenic
|
| Variant entry | 1 |
| 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 | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
thrombotic microangiopathy |
not provided
|
MGS000036
(TMGS000079) |
Mariko Shiba Koichi Kokame |
National Cerebral and Cardiovascular Center National Cerebral and Cardiovascular Center Research Institute |
31698449
23188471 21781265 |
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
| Descrption | Source | Links |
|---|---|---|
| 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
- hg38
- Position
- chr9:133,433,477-133,433,477
- 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 Chromosome Counts (ExAC)
- 8630
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- 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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