chr9:133436943:C>T Detail (hg38) (ADAMTS13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:136,302,063-136,302,063 View the variant detail on this assembly version. |
| hg38 | chr9:133,436,943-133,436,943 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_139026.4:c.1330C>T | NP_620595.1:p.Pro444Ser |
| NM_139025.4:c.1423C>T | NP_620594.1:p.Pro475Ser | |
| NM_139027.4:c.1423C>T | NP_620596.2:p.Pro475Ser |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.051 |
| ToMMo:0.058 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.025 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
thrombotic microangiopathy |
not provided
|
MGS000036
(TMGS000079) |
Mariko Shiba Koichi Kokame |
National Cerebral and Cardiovascular Center National Cerebral and Cardiovascular Center Research Institute |
21781265
21676167 |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Benign
Likely benign
|
2019-05-28 | criteria provided, multiple submitters, no conflicts | Upshaw-Schulman syndrome |
germline
unknown
|
Detail |
|
Likely benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
Conflicting interpretations of pathogenicity
|
2024-01-22 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.019 | Purpura, Thrombotic Thrombocytopenic | The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to ... | BeFree | 23621748 | Detail |
| 0.453 | Congenital Thrombotic Thrombocytopenic Purpura | NA | CLINVAR | Detail | |
| 0.227 | Purpura, Thrombotic Thrombocytopenic | The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to ... | BeFree | 23621748 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) AND Upshaw-Schulman syndrome | ClinVar | Detail |
| NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) AND not specified | ClinVar | Detail |
| NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) AND not provided | ClinVar | Detail |
| The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The moderate activity of ADAMTS-13-P475S for shear-treated VWF is sufficient to prevent thrombotic t... | 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
- rs11575933 dbSNP
- Genome
- hg38
- Position
- chr9:133,436,943-133,436,943
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1188
- Mean of sample read depth (HGVD)
- 52.24
- Standard deviation of sample read depth (HGVD)
- 24.87
- Number of reference allele (HGVD)
- 2255
- Number of alternative allele (HGVD)
- 121
- Allele Frequency (HGVD)
- 0.05092592592592592
- Gene Symbol (HGVD)
- ADAMTS13
- 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))
- rs11575933
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0582
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 975
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 4614
- East Asian Allele Counts (ExAC)
- 117
- East Asian Heterozygous Counts (ExAC)
- 117
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.025357607282184655
- Chromosome Counts in All Race (ExAC)
- 52912
- Allele Counts in All Race (ExAC)
- 388
- Heterozygous Counts in All Race (ExAC)
- 380
- Homozygous Counts in All Race (ExAC)
- 4
- Allele Frequency in All Race (ExAC)
- 0.0073329301481705475
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