chr19:49377242:G>C Detail (hg19) (PPP1R15A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:49,377,242-49,377,242 |
| hg38 | chr19:48,873,985-48,873,985 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014330.3:c.752G>C | NP_055145.3:p.Arg251Pro |
| Ensemble | ENST00000200453.6:c.752G>C | ENST00000200453.6:p.Arg251Pro |
| ENST00000600406.2:c.752G>C | ENST00000600406.2:p.Arg251Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.101 |
| ToMMo:0.120 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.100 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| colorectal cancer | FOLFIRI Regimen,Bevacizumab | B |
Predictive
|
Supports
|
Sensitivity/Response | Common Germline | 1 | 27177629 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Exome and RNA sequencing was performed in tumor and matched normal tissue of 19 patients with metast... | 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
- -
- Genome
- hg19
- Position
- chr19:49,377,242-49,377,242
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1169
- Mean of sample read depth (HGVD)
- 62.39
- Standard deviation of sample read depth (HGVD)
- 29.88
- Number of reference allele (HGVD)
- 2101
- Number of alternative allele (HGVD)
- 236
- Allele Frequency (HGVD)
- 0.10098416773641421
- Gene Symbol (HGVD)
- PPP1R15A
- 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))
- rs557806
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1196
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2005
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 860
- East Asian Heterozygous Counts (ExAC)
- 766
- East Asian Homozygous Counts (ExAC)
- 47
- East Asian Allele Frequency (ExAC)
- 0.09953703703703703
- Chromosome Counts in All Race (ExAC)
- 121088
- Allele Counts in All Race (ExAC)
- 25520
- Heterozygous Counts in All Race (ExAC)
- 17341
- Homozygous Counts in All Race (ExAC)
- 4089
- Allele Frequency in All Race (ExAC)
- 0.21075581395348839
- Variant (CIViC) (CIViC Variant)
- RS557806
- Transcript 1 (CIViC Variant)
- ENST00000200453.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/548
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