chr8:90936743:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:90,936,743-90,996,952 |
| hg38 | chr8:89,924,515-89,984,724 |
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 |
|---|---|---|---|---|---|
| 0.003 | squamous cell carcinoma | NA | LHGDN | Detail | |
| 0.002 | Uterine Cervical Neoplasm | NA | GAD | Detail | |
| 0.005 | Chromosome Aberrations | NA | GAD | Detail | |
| 0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.007 | Colorectal Neoplasms | NA | GAD,LHGDN | Detail | |
| <0.001 | cystic fibrosis | NA | BeFree | Detail | |
| 0.002 | DNA Damage | NA | GAD | Detail | |
| 0.004 | Fanconi anemia | NA | BeFree,LHGDN | Detail | |
| 0.002 | Genital Neoplasms, Female | NA | GAD | Detail | |
| 0.003 | glioblastoma | NA | BeFree,GAD | Detail | |
| 0.005 | Glioma | NA | GAD | Detail | |
| 0.002 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| 0.005 | Laryngeal neoplasm | NA | GAD,LHGDN | Detail | |
| 0.009 | leukemia | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | chronic lymphocytic leukemia | NA | GAD | Detail | |
| 0.002 | lymphoid leukemia | NA | GAD | Detail | |
| 0.001 | Acute lymphocytic leukemia | NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia. | BeFree | 25176580 | Detail |
| 0.001 | Leukemia, Lymphocytic, Acute, L1 | We also observed significant influence of hOGG-RAD51 and NBN-RAD51 interactions ... | BeFree | 25746326 | Detail |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| 0.002 | myeloid leukemia | NA | GAD | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.008 | Lung Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.003 | Lupus Erythematosus, Systemic | NA | BeFree,GAD | Detail | |
| 0.007 | lymphoma | NA | BeFree,GAD | Detail | |
| 0.002 | Lymphoma, Follicular | NA | GAD | Detail | |
| 0.016 | Lymphoma, Non-Hodgkin | In addition, our study provides suggestive evidence of an interaction between SN... | BeFree,GAD,LHGDN | 25010664 | Detail |
| <0.001 | lymphopenia | NA | BeFree | Detail | |
| 0.002 | Animal Mammary Neoplasms | NA | GAD | Detail | |
| 0.006 | medulloblastoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.008 | melanoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Meningeal Neoplasms | NA | GAD | Detail | |
| 0.003 | meningioma | NA | BeFree,GAD | Detail | |
| <0.001 | Mental Retardation | NA | BeFree | Detail | |
| 0.001 | microcephaly | NA | BeFree | Detail | |
| 0.002 | Mouth Neoplasms | NA | GAD | Detail | |
| 0.002 | multiple sclerosis | NA | GAD | Detail | |
| <0.001 | Neck Neoplasms | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.002 | Neoplasms, Multiple Primary | NA | GAD | Detail | |
| 0.002 | acoustic neuroma | NA | GAD | Detail | |
| 0.002 | obesity | NA | GAD | Detail | |
| 0.001 | ovarian carcinoma | Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovari... | BeFree | 26315354 | Detail |
| 0.002 | Parkinson disease | NA | GAD | Detail | |
| 0.002 | polycystic ovary syndrome | NA | GAD | Detail | |
| 0.002 | Precancerous Conditions | NA | GAD | Detail | |
| 0.120 | Prostatic Neoplasms | NA | CTD_human | Detail | |
| 0.002 | Delayed puberty | NA | GAD | Detail | |
| 0.002 | Precocious Puberty | NA | GAD | Detail | |
| 0.002 | Stomach Neoplasms | NA | GAD | Detail | |
| 0.120 | stomatitis | NA | BeFree,CTD_human | Detail | |
| 0.002 | Thyroid Neoplasm | NA | GAD | Detail | |
| 0.005 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Tuberculosis, Pulmonary | NA | BeFree | Detail | |
| <0.001 | Virus Diseases | NA | BeFree | Detail | |
| 0.003 | Werner syndrome | NA | LHGDN | Detail | |
| 0.003 | diffuse large B-cell lymphoma | NA | BeFree,GAD | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| <0.001 | Neoplasms, Second Primary | NA | BeFree | Detail | |
| 0.002 | Ovarian Failure, Premature | NA | GAD | Detail | |
| <0.001 | acute leukemia | NA | BeFree | Detail | |
| <0.001 | Cutaneous Melanoma | NA | BeFree | Detail | |
| <0.001 | Hypopharyngeal Cancer | NA | BeFree | Detail | |
| <0.001 | uveal melanoma | NA | BeFree | Detail | |
| <0.001 | biotinidase deficiency | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of female breast | NA | BeFree | Detail | |
| <0.001 | Anaplastic thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma breast stage IV | NA | BeFree | Detail | |
| 0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | de novo myelodysplastic syndromes | NA | BeFree | Detail | |
| <0.001 | bilateral breast cancer | NA | BeFree | Detail | |
| 0.001 | Breast Cancer, Familial | NA | BeFree | Detail | |
| 0.007 | Malignant neoplasm of prostate | NBN gain is predictive for adverse outcome following image-guided radiotherapy f... | BeFree,GAD | 25415046 | Detail |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| 0.002 | Chromosome Breakage | NA | GAD | Detail | |
| 0.002 | thrombophilia | NA | GAD | Detail | |
| <0.001 | Developmental delay (disorder) | NA | BeFree | Detail | |
| <0.001 | endometrial carcinoma | Loss of MRE11 protein was found in 30.7% of EC tumours and significantly associa... | BeFree | 24927325 | Detail |
| <0.001 | endometrial carcinoma | When matched to a cohort of 107 breast tumors based on HercepTest HER2 expressio... | BeFree | 25602714 | Detail |
| <0.001 | Squamous cell carcinoma of mouth | NA | BeFree | Detail | |
| <0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
| 0.002 | Carcinogenesis | NA | BeFree | Detail | |
| 0.002 | prostate carcinoma | NBN gain is predictive for adverse outcome following image-guided radiotherapy f... | BeFree | 25415046 | Detail |
| 0.120 | Hereditary Breast and Ovarian Cancer Syndrome | NA | ORPHANET | Detail | |
| 0.002 | Epithelial ovarian cancer | NA | GAD | Detail | |
| 0.010 | breast carcinoma | 17 double heterozygous (DH) breast cancer (BC) patients were identified upon the... | BeFree | 24800916 | Detail |
| 0.010 | breast carcinoma | Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN cont... | BeFree | 24894818 | Detail |
| 0.010 | breast carcinoma | Mutations in NBN, the gene for Nijmegen Breakage Syndrome (NBS), are thought to ... | BeFree | 24928521 | Detail |
| 0.002 | skin carcinoma | NA | GAD | Detail | |
| <0.001 | Cystathionine beta-Synthase Deficiency Disease | NA | BeFree | Detail | |
| 0.005 | ovarian neoplasm | NA | LHGDN | Detail | |
| 0.010 | Malignant neoplasm of ovary | Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovari... | BeFree,GAD | 26315354 | Detail |
| 0.002 | Squamous cell carcinoma of the head and neck | In this study, therefore, we investigated whether a targeted molecular hit on th... | BeFree | 25324139 | Detail |
| 0.002 | Chromosomal Instability | NA | GAD | Detail | |
| <0.001 | Nicolaides Baraitser syndrome | NA | BeFree | Detail | |
| <0.001 | childhood leukemia | NA | BeFree | Detail | |
| <0.001 | Hereditary Malignant Neoplasm | NA | BeFree | Detail | |
| <0.001 | Sporadic Breast Carcinoma | NA | BeFree | Detail | |
| <0.001 | Hypopharyngeal Carcinoma | NA | BeFree | Detail | |
| 0.024 | Mammary Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.003 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | Oral Mucositis | NA | BeFree | Detail | |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| <0.001 | Recurrent infections (sinusitis and bacterial pneumonia and meningitis) | NA | BeFree | Detail | |
| <0.001 | Ataxia-telangiectasia-like disorder | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | Loss of MRE11 protein was found in 30.7% of EC tumours and significantly associa... | BeFree | 24927325 | Detail |
| <0.001 | uterine corpus cancer | When matched to a cohort of 107 breast tumors based on HercepTest HER2 expressio... | BeFree | 25602714 | Detail |
| 0.004 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree,LHGDN | 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 | Congenital microcephaly | NA | BeFree | Detail | |
| <0.001 | Promyelocytic leukemia | NA | BeFree | Detail | |
| 0.120 | Prostate cancer, familial | NA | ORPHANET | Detail | |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| <0.001 | Experimental Organism Basal Cell Carcinoma | NA | BeFree | Detail | |
| 0.003 | Anoxia | NA | LHGDN | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| <0.001 | Ataxia | NA | BeFree | Detail | |
| 0.007 | ataxia telangiectasia | NA | BeFree,LHGDN | Detail | |
| 0.007 | Brain Neoplasms | NA | GAD | Detail | |
| 0.194 | Malignant neoplasm of breast | 17 double heterozygous (DH) breast cancer (BC) patients were identified upon the... | BeFree,GAD,UNIPROT | 24800916 | Detail |
| 0.194 | Malignant neoplasm of breast | Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN cont... | BeFree,GAD,UNIPROT | 24894818 | Detail |
| 0.194 | Malignant neoplasm of breast | Mutations in NBN, the gene for Nijmegen Breakage Syndrome (NBS), are thought to ... | BeFree,GAD,UNIPROT | 24928521 | Detail |
| <0.001 | Malignant neoplasm of endometrium | Loss of MRE11 protein was found in 30.7% of EC tumours and significantly associa... | BeFree | 24927325 | Detail |
| <0.001 | Malignant neoplasm of endometrium | When matched to a cohort of 107 breast tumors based on HercepTest HER2 expressio... | BeFree | 25602714 | Detail |
| <0.001 | female breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of larynx | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| 0.003 | renal cell carcinoma | NA | LHGDN | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia. | DisGeNET | Detail |
| We also observed significant influence of hOGG-RAD51 and NBN-RAD51 interactions on susceptibility to... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In addition, our study provides suggestive evidence of an interaction between SNPs in MRE11A and NBS... | 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 |
| Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NBN gain is predictive for adverse outcome following image-guided radiotherapy for localized prostat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Loss of MRE11 protein was found in 30.7% of EC tumours and significantly associated with loss of RAD... | DisGeNET | Detail |
| When matched to a cohort of 107 breast tumors based on HercepTest HER2 expression, high grade EnCa p... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NBN gain is predictive for adverse outcome following image-guided radiotherapy for localized prostat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| 17 double heterozygous (DH) breast cancer (BC) patients were identified upon the analysis of 5,391 a... | DisGeNET | Detail |
| Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast can... | DisGeNET | Detail |
| Mutations in NBN, the gene for Nijmegen Breakage Syndrome (NBS), are thought to predispose women to ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. | DisGeNET | Detail |
| In this study, therefore, we investigated whether a targeted molecular hit on the MRN complex, which... | 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 |
| Loss of MRE11 protein was found in 30.7% of EC tumours and significantly associated with loss of RAD... | DisGeNET | Detail |
| When matched to a cohort of 107 breast tumors based on HercepTest HER2 expression, high grade EnCa p... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | 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 |
| 17 double heterozygous (DH) breast cancer (BC) patients were identified upon the analysis of 5,391 a... | DisGeNET | Detail |
| Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast can... | DisGeNET | Detail |
| Mutations in NBN, the gene for Nijmegen Breakage Syndrome (NBS), are thought to predispose women to ... | DisGeNET | Detail |
| Loss of MRE11 protein was found in 30.7% of EC tumours and significantly associated with loss of RAD... | DisGeNET | Detail |
| When matched to a cohort of 107 breast tumors based on HercepTest HER2 expression, high grade EnCa p... | DisGeNET | Detail |
| NA | 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
- chr8:90,936,743-90,996,952
- Variant Type
- snv
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