chr14:103712930:T>C Detail (hg38) (KLC1, XRCC3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:104,179,267-104,179,267 View the variant detail on this assembly version. |
| hg38 | chr14:103,712,930-103,712,930 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000348520.10:c.*11731T>C |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001100118.1:c.-260-1363A>G | |
| NM_001100119.1:c.-316A>G | ||
| NM_005432.3:c.-316A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.470 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
|---|---|---|---|---|---|
| 0.042 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.005 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.012 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.002 | Xeroderma Pigmentosum, Complementation Group D | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.098 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.080 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.018 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.005 | Non-small cell lung carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.084 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.018 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.011 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.360 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.097 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.085 | Malignant neoplasm of breast | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.008 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.006 | breast carcinoma | We aimed to determine the associations of genetic polymorphisms of excision repa... | BeFree | 24933103 | Detail |
| 0.003 | stomach carcinoma | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
| 0.003 | Malignant neoplasm of esophagus | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
| 0.007 | Malignant neoplasm of stomach | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
| 0.127 | Esophageal Neoplasms | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
| <0.001 | esophageal carcinoma | In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... | BeFree | 21347786 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementa... | DisGeNET | Detail |
| In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
| In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
| In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
| In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | DisGeNET | Detail |
| In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... | 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
- rs1799794 dbSNP
- Genome
- hg38
- Position
- chr14:103,712,930-103,712,930
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs1799794
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.47
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7877
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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