chr9:133445787:C>T Detail (hg38) (ADAMTS13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:136,310,908-136,310,908 View the variant detail on this assembly version. |
| hg38 | chr9:133,445,787-133,445,787 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_139026.4:c.2606C>T | NP_620595.1:p.Ala869Val |
| NM_139025.4:c.2699C>T | NP_620594.1:p.Ala900Val | |
| NM_139027.4:c.2699C>T | NP_620596.2:p.Ala900Val |
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 |
Benign
Likely benign
|
| Review star |  |
| Show details | |
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) AND not specified | ClinVar | Detail |
| NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) AND Upshaw-Schulman syndrome | ClinVar | Detail |
| NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) AND not provided | ClinVar | Detail |
| Based on related populations frequencies and functional studies, we tested three ADAMTS13 polymorphi... | 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
- rs685523 dbSNP
- Genome
- hg38
- Position
- chr9:133,445,787-133,445,787
- 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)
- 61.40
- Standard deviation of sample read depth (HGVD)
- 30.11
- 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)
- 8558
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.505491937368544E-4
- Chromosome Counts in All Race (ExAC)
- 115078
- Allele Counts in All Race (ExAC)
- 10062
- Heterozygous Counts in All Race (ExAC)
- 8998
- Homozygous Counts in All Race (ExAC)
- 532
- Allele Frequency in All Race (ExAC)
- 0.08743634752081197
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