chr9:136314973:TGCCCG> Detail (hg19) (ADAMTS13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:136,314,973-136,314,978 |
| hg38 | chr9:133,449,852-133,449,857 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_139026.4:c.2838_2843delTGCCCG | NP_620595.1:p.Cys946_Arg948delinsTrp |
| NM_139025.4:c.2931_2936delTGCCCG | NP_620594.1:p.Cys977_Arg979delinsTrp | |
| NM_139027.4:c.2931_2936delTGCCCG | NP_620596.2:p.Cys977_Arg979delinsTrp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2004-11-01 | no assertion criteria provided | Upshaw-Schulman syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.453 | Congenital Thrombotic Thrombocytopenic Purpura | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_139027.6(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp) AND Upshaw-Schulman syndrome | ClinVar | Detail |
| NA | 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
- rs387906346 dbSNP
- Genome
- hg19
- Position
- chr9:136,314,973-136,314,978
- Variant Type
- snv
- Reference Allele
- TGCCCG
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8620
- 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)
- 119992
- 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)
- 8.333888925928395E-6
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