chr9:133445811:G>A Detail (hg38) (ADAMTS13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:136,310,932-136,310,932 View the variant detail on this assembly version. |
| hg38 | chr9:133,445,811-133,445,811 |
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 |
Pathogenic
|
| Variant entry | 1 |
| 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 | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
thrombotic microangiopathy |
germline
|
MGS000036
(TMGS000079) |
Mariko Shiba Koichi Kokame |
National Cerebral and Cardiovascular Center National Cerebral and Cardiovascular Center Research Institute |
31698449
23870247 21781265 17988227 14563640 |
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
| Descrption | Source | Links |
|---|---|---|
| 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
- hg38
- Position
- chr9:133,445,811-133,445,811
- 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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