chr9:8521481:C>T Detail (hg19) (PTPRD)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:8,521,481-8,521,481 |
| hg38 | chr9:8,521,481-8,521,481 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_130391.3:c.757G>A | NP_569075.2:p.Val253Ile |
| NM_130392.3:c.757G>A | NP_569076.2:p.Val253Ile | |
| NM_002839.3:c.757G>A | NP_002830.1:p.Val253Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| 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 | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| Ewing sarcoma of bone | Cixutumumab,Teprotumumab | C |
Predictive
|
Supports
|
Sensitivity/Response | Rare Germline | 4 | 23800680 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Report of complete response to IGF1-R antibody, with or without mTOR inhibitor tensirolimus in 2/3 E... | CIViC Evidence | 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
- rs760428875 dbSNP
- Genome
- hg19
- Position
- chr9:8,521,481-8,521,481
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs760428875
- 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)
- 8626
- 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)
- 121270
- Allele Counts in All Race (ExAC)
- 15
- Heterozygous Counts in All Race (ExAC)
- 15
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.2369093757730684E-4
- Variant (CIViC) (CIViC Variant)
- V253I
- Transcript 1 (CIViC Variant)
- ENST00000381196.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/792
Genome browser