chr14:20925270:G>A Detail (hg19) (APEX1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:20,925,270-20,925,270 |
| hg38 | chr14:20,457,111-20,457,111 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_080648.2:c.560G>A | NP_542379.1:p.Arg187His |
| NM_080649.2:c.560G>A | NP_542380.1:p.Arg187His | |
| NM_001244249.1:c.560G>A | NP_001231178.1:p.Arg187His |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.156 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.005 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.012 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | 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
- rs148298598 dbSNP
- Genome
- hg19
- Position
- chr14:20,925,270-20,925,270
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs148298598
- 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))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.155802126675913E-4
- Chromosome Counts in All Race (ExAC)
- 121236
- Allele Counts in All Race (ExAC)
- 22
- Heterozygous Counts in All Race (ExAC)
- 20
- Homozygous Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 1.8146425154244613E-4
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