chr5:80654652:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:79,950,471-80,172,634 |
| hg38 | chr5:80,654,652-80,876,815 |
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 |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | We examined the influence of MLH1 c.-93G>A, MSH2 c.211 + 9C>G, MSH3 c.3133G>A an... | BeFree | 25598504 | Detail |
| <0.001 | Primary biliary cirrhosis | NA | BeFree | Detail | |
| <0.001 | chordoma | NA | BeFree | Detail | |
| 0.004 | colorectal carcinoma | Mutations in microsatellite sequences (A)7 of BMPR2 and (A)8 of MSH3 were signif... | BeFree | 26247575 | Detail |
| 0.011 | Colorectal Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | cystic fibrosis | NA | BeFree | Detail | |
| <0.001 | Cytomegalovirus Infections | NA | BeFree | Detail | |
| <0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| <0.001 | Fanconi anemia | NA | BeFree | Detail | |
| 0.002 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Hamartoma | NA | BeFree | Detail | |
| 0.008 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.013 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Intestinal Neoplasms | NA | BeFree | Detail | |
| <0.001 | kernicterus | NA | BeFree | Detail | |
| 0.006 | leukemia | NA | BeFree,GAD | Detail | |
| 0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| 0.005 | Leukemia, Myelocytic, Acute | Therefore, this study indicated that sialylation involved in the development of ... | BeFree | 24531716 | Detail |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | Leukemia, T-Cell | NA | BeFree | Detail | |
| <0.001 | Adult T-Cell Lymphoma/Leukemia | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Mesothelioma | NA | BeFree | Detail | |
| <0.001 | Monosomy | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | myocardial infarction | NA | BeFree | Detail | |
| 0.002 | Neoplasm Metastasis | This acquired genotype correlates with metastasis and poor outcomes for patients... | BeFree | 25461668 | Detail |
| <0.001 | nephroblastoma | NA | BeFree | Detail | |
| 0.002 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| <0.001 | osteosarcoma | NA | BeFree | Detail | |
| 0.002 | ovarian carcinoma | Together, these results suggest that emodin could act as an adjunct to enhance t... | BeFree | 25580427 | Detail |
| <0.001 | Pancreatic Diseases | NA | BeFree | Detail | |
| 0.002 | Pancreatic Neoplasm | NA | GAD | Detail | |
| <0.001 | polyps | NA | BeFree | Detail | |
| 0.123 | Prostatic Neoplasms | NA | CTD_human,LHGDN | Detail | |
| <0.001 | Retroviridae Infections | NA | BeFree | Detail | |
| <0.001 | Spinal Cord Neoplasms | NA | BeFree | Detail | |
| <0.001 | Spinal Neoplasms | NA | BeFree | Detail | |
| <0.001 | synovial sarcoma | NA | BeFree | Detail | |
| 0.002 | Thyroid Neoplasm | NA | GAD | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Unipolar Depression | NA | BeFree | Detail | |
| <0.001 | diffuse large B-cell lymphoma | NA | BeFree | Detail | |
| 0.001 | acute leukemia | NA | BeFree | Detail | |
| 0.002 | Small cell carcinoma of lung | NA | BeFree | Detail | |
| 0.120 | Adenocarcinoma of lung (disorder) | NA | CTD_human | Detail | |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Pelizaeus-Merzbacher disease | Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrang... | BeFree | 25749076 | Detail |
| <0.001 | mucoepidermoid carcinoma | NA | BeFree | Detail | |
| <0.001 | Adult Acute Myeloblastic Leukemia | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of lung | We identified mutations in both tumors, including KEAP1 (commonly mutated in lun... | BeFree,GAD | 25850996 | Detail |
| <0.001 | Turcot syndrome (disorder) | NA | BeFree | Detail | |
| <0.001 | recurrent childhood acute lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | Malignant Childhood Neoplasm | NA | BeFree | Detail | |
| <0.001 | Transitional cell carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Hamartomatous polyp | NA | BeFree | Detail | |
| <0.001 | Papillary serous cystadenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Arteriovenous hemangioma | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of colon | NA | BeFree | Detail | |
| <0.001 | malignant mesothelioma | NA | BeFree | Detail | |
| <0.001 | Breast Cancer, Familial | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | Increased drug resistance | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Osteosarcoma of bone | NA | BeFree | Detail | |
| <0.001 | Carcinoma of larynx | Moreover, suppression of CK2α was found to enhance the apoptosis induced by cisp... | BeFree | 24831064 | Detail |
| 0.002 | Carcinogenesis | Furthermore, functional studies of MSH3 germline mutations confirmed the associa... | BeFree | 25927356 | Detail |
| 0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.003 | Epithelial ovarian cancer | Together, these results suggest that emodin could act as an adjunct to enhance t... | BeFree,GAD | 25580427 | Detail |
| 0.008 | breast carcinoma | NA | BeFree | Detail | |
| 0.003 | Carcinoma of lung | We identified mutations in both tumors, including KEAP1 (commonly mutated in lun... | BeFree | 25850996 | Detail |
| <0.001 | Malignant neoplasm of gastrointestinal tract | NA | BeFree | Detail | |
| 0.003 | colon carcinoma | NA | BeFree | Detail | |
| 0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.002 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | thrombocytosis | NA | BeFree | Detail | |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| 0.003 | ovarian neoplasm | NA | BeFree,LHGDN | Detail | |
| 0.122 | Microsatellite Instability | NA | CTD_human,GAD | Detail | |
| <0.001 | Ovarian adenocarcinoma | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | major depressive disorder | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of large intestine | NA | BeFree | Detail | |
| 0.002 | Hereditary Nonpolyposis Colorectal Cancer | Additionally, we observed differences in MSH3 and TGFBR2 mutational frequency be... | BeFree | 26247575 | Detail |
| <0.001 | Sporadic Breast Carcinoma | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| 0.012 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | Neoplasms, Intracranial | NA | BeFree | Detail | |
| <0.001 | Glioblastoma multiforme | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | Lubs X-linked mental retardation syndrome | Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrang... | BeFree | 25749076 | Detail |
| 0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| 0.002 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1... | BeFree | 25023197 | Detail |
| 0.004 | adenocarcinoma | NA | BeFree,GAD | Detail | |
| 0.002 | papillary adenocarcinoma | NA | GAD | Detail | |
| <0.001 | adenoma | NA | BeFree | Detail | |
| <0.001 | Congenital arteriovenous malformation | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| 0.002 | atherosclerosis | NA | GAD | Detail | |
| 0.008 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.003 | Bladder Neoplasm | NA | BeFree,LHGDN | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail | |
| <0.001 | Brain Neoplasms | NA | BeFree | Detail | |
| 0.013 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.003 | Malignant tumor of colon | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| 0.003 | basal cell carcinoma | NA | LHGDN | Detail | |
| 0.003 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We examined the influence of MLH1 c.-93G>A, MSH2 c.211 + 9C>G, MSH3 c.3133G>A and EXO1 c.1765G>A pol... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in microsatellite sequences (A)7 of BMPR2 and (A)8 of MSH3 were significantly more frequen... | 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 |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Therefore, this study indicated that sialylation involved in the development of MDR of AML cells pro... | 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 |
| This acquired genotype correlates with metastasis and poor outcomes for patients, and is associated ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Together, these results suggest that emodin could act as an adjunct to enhance the anticancer effect... | 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 |
| Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We identified mutations in both tumors, including KEAP1 (commonly mutated in lung cancers) in one, a... | 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 |
| Moreover, suppression of CK2α was found to enhance the apoptosis induced by cisplatin in laryngeal c... | DisGeNET | Detail |
| Furthermore, functional studies of MSH3 germline mutations confirmed the association between MSH3 mu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Together, these results suggest that emodin could act as an adjunct to enhance the anticancer effect... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We identified mutations in both tumors, including KEAP1 (commonly mutated in lung cancers) in one, a... | 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 |
| Additionally, we observed differences in MSH3 and TGFBR2 mutational frequency between Lynch syndrome... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1800067>R415Q (rs1800... | 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 |
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
- hg38
- Position
- chr5:80,654,652-80,876,815
- Variant Type
- snv
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