chr19:45409148:G>A Detail (hg38) (ERCC1, POLR1G)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,912,406-45,912,406 View the variant detail on this assembly version. |
| hg38 | chr19:45,409,148-45,409,148 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001983.3:c.*527C>T | |
| Ensemble | ENST00000300853.8:c.*527C>T | |
| ENST00000423698.6:c.*527C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_012099.1:c.1180G>A | NP_036231.1:p.Asp394Asn |
| NM_001297590.1:c.1186G>A | NP_001284519.1:p.Asp396Asn | |
| Ensemble | ENST00000309424.8:c.1180G>A | ENST00000309424.8:p.Asp394Asn |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.456 |
| ToMMo:0.470 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.444 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.126 | Neoplasm Metastasis | Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1... | BeFree | 25690281 | Detail |
| 0.006 | Neoplasm Metastasis | Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1... | BeFree | 25690281 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1 rs2336219 have a si... | DisGeNET | Detail |
| Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1 rs2336219 have a si... | 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
- -
- Genome
- hg38
- Position
- chr19:45,409,148-45,409,148
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1155
- Mean of sample read depth (HGVD)
- 73.13
- Standard deviation of sample read depth (HGVD)
- 34.35
- Number of reference allele (HGVD)
- 1253
- Number of alternative allele (HGVD)
- 1052
- Allele Frequency (HGVD)
- 0.45639913232104123
- Gene Symbol (HGVD)
- CD3EAP
- 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))
- rs2336219
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4697
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7873
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8628
- East Asian Allele Counts (ExAC)
- 3828
- East Asian Heterozygous Counts (ExAC)
- 2134
- East Asian Homozygous Counts (ExAC)
- 847
- East Asian Allele Frequency (ExAC)
- 0.44367176634214184
- Chromosome Counts in All Race (ExAC)
- 120314
- Allele Counts in All Race (ExAC)
- 24921
- Heterozygous Counts in All Race (ExAC)
- 18675
- Homozygous Counts in All Race (ExAC)
- 3123
- Allele Frequency in All Race (ExAC)
- 0.20713300197815715
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