chr5:82373317:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:82,373,317-82,649,606 |
| hg38 | chr5:83,077,498-83,353,787 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.005 | squamous cell carcinoma | NA | GAD | Detail | |
| 0.120 | Chromosome Aberrations | NA | CTD_human | Detail | |
| <0.001 | Congenital chromosomal disease | DNA damage was accompanied by induction of XRCC4 expression and an increased fre... | BeFree | 24694657 | Detail |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.002 | Colorectal Neoplasms | NA | GAD | Detail | |
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| 0.002 | DNA Damage | NA | GAD | Detail | |
| <0.001 | Dwarfism | Mutations in the NHEJ component XRCC4 cause primordial dwarfism. | BeFree | 25728776 | Detail |
| <0.001 | Dwarfism | An XRCC4 splice mutation associated with severe short stature, gonadal failure, ... | BeFree | 25742519 | Detail |
| 0.005 | endometriosis | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Failure to Thrive | This finding expands the spectrum of DNA damage repair syndromes to include XRCC... | BeFree | 25742519 | Detail |
| <0.001 | Fanconi anemia | NA | BeFree | Detail | |
| 0.008 | Glioma | Association of LIG4 and XRCC4 gene polymorphisms with the risk of human glioma i... | BeFree,GAD | 25973104 | Detail |
| 0.120 | Hypertensive disease | NA | GWASCAT | Detail | |
| 0.003 | Fibroid Tumor | NA | BeFree,GAD | Detail | |
| 0.005 | leukemia | NA | BeFree,GAD | Detail | |
| 0.002 | chronic lymphocytic leukemia | NA | GAD | Detail | |
| <0.001 | Liver diseases | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.003 | Lymphoma, Non-Hodgkin | NA | BeFree,GAD | Detail | |
| 0.003 | Malignant neoplasm of stomach | NA | BeFree,GAD | Detail | |
| 0.002 | Meningeal Neoplasms | NA | GAD | Detail | |
| 0.002 | meningioma | NA | GAD | Detail | |
| 0.015 | Mouth Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.003 | multiple myeloma | NA | BeFree,GAD | Detail | |
| 0.002 | multiple sclerosis | NA | GAD | Detail | |
| <0.001 | myoma | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.002 | acoustic neuroma | NA | GAD | Detail | |
| 0.002 | Precancerous Conditions | NA | GAD | Detail | |
| 0.003 | schizophrenia | NA | BeFree,GAD | Detail | |
| <0.001 | systemic scleroderma | NA | BeFree | Detail | |
| 0.007 | Stomach Neoplasms | NA | GAD,LHGDN | Detail | |
| <0.001 | synovial sarcoma | NA | BeFree | Detail | |
| 0.005 | Thyroid Neoplasm | NA | GAD | Detail | |
| <0.001 | Uterine Fibroids | NA | BeFree | Detail | |
| 0.002 | diffuse large B-cell lymphoma | NA | GAD | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| <0.001 | severe combined immunodeficiency | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of mouth | A systematic gene-gene and gene-environment interaction analysis of DNA repair g... | BeFree | 25831063 | Detail |
| 0.001 | Lip and oral cavity carcinoma | A systematic gene-gene and gene-environment interaction analysis of DNA repair g... | BeFree | 25831063 | Detail |
| <0.001 | systemic scleroderma | XRCC1 (rs: 25487) and XRCC4 (rs: 28360135) allele and genotype frequencies obser... | BeFree | 24488411 | Detail |
| 0.010 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | Xeroderma Pigmentosum, Complementation Group D | NA | BeFree | Detail | |
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | NA | BeFree | Detail | |
| <0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | NA | BeFree | Detail | |
| 0.121 | PITUITARY DWARFISM I | Mutations in the NHEJ component XRCC4 cause primordial dwarfism. | BeFree,CLINVAR | 25728776 | Detail |
| <0.001 | Malignant neoplasm of liver | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of prostate | Role of the functional variant (-652T>G) in the XRCC4 promoter in prostate cance... | BeFree,GAD | 25096509 | Detail |
| 0.002 | body mass | NA | GAD | Detail | |
| <0.001 | Metabolic syndrome X | An XRCC4 splice mutation associated with severe short stature, gonadal failure, ... | BeFree | 25742519 | Detail |
| 0.003 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | Role of the functional variant (-652T>G) in the XRCC4 promoter in prostate cance... | BeFree | 25096509 | Detail |
| 0.002 | Epithelial ovarian cancer | NA | GAD | Detail | |
| 0.003 | breast carcinoma | A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chines... | BeFree | 25360583 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Helicobacter pylori infection | NA | BeFree | Detail | |
| <0.001 | Growth failure | This finding expands the spectrum of DNA damage repair syndromes to include XRCC... | BeFree | 25742519 | Detail |
| 0.005 | Mammary Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.005 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | We identified a recessive missense variant, rs3734091 (c.739G>T, p.Ala247Ser), o... | BeFree | 25360583 | Detail |
| 0.003 | adenocarcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | Adenovirus Infections | NA | BeFree | Detail | |
| <0.001 | Alcoholic Intoxication, Chronic | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | Might there be a link between intron 3 VNTR polymorphism in the XRCC4 DNA repair... | BeFree | 25494482 | Detail |
| 0.013 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.007 | Brain Neoplasms | NA | GAD | Detail | |
| 0.017 | Malignant neoplasm of breast | A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chines... | BeFree,GAD | 25360583 | Detail |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| 0.002 | Carcinoma, Papillary | NA | GAD | Detail | |
| 0.003 | renal cell carcinoma | NA | LHGDN | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| DNA damage was accompanied by induction of XRCC4 expression and an increased frequency of CAs. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the NHEJ component XRCC4 cause primordial dwarfism. | DisGeNET | Detail |
| An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset meta... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This finding expands the spectrum of DNA damage repair syndromes to include XRCC4 deficiency causing... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of LIG4 and XRCC4 gene polymorphisms with the risk of human glioma in a Chinese populati... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A systematic gene-gene and gene-environment interaction analysis of DNA repair genes XRCC1, XRCC2, X... | DisGeNET | Detail |
| A systematic gene-gene and gene-environment interaction analysis of DNA repair genes XRCC1, XRCC2, X... | DisGeNET | Detail |
| XRCC1 (rs: 25487) and XRCC4 (rs: 28360135) allele and genotype frequencies observed in patients with... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the NHEJ component XRCC4 cause primordial dwarfism. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Role of the functional variant (-652T>G) in the XRCC4 promoter in prostate cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset meta... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Role of the functional variant (-652T>G) in the XRCC4 promoter in prostate cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This finding expands the spectrum of DNA damage repair syndromes to include XRCC4 deficiency causing... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We identified a recessive missense variant, rs3734091 (c.739G>T, p.Ala247Ser), of XRCC4 that was sig... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Might there be a link between intron 3 VNTR polymorphism in the XRCC4 DNA repair gene and the etiopa... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs386493716 dbSNP
- Genome
- hg19
- Position
- chr5:82,373,317-82,649,606
- Variant Type
- snv
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