chr1:45329163:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:45,794,835-45,806,142 |
| hg38 | chr1:45,329,163-45,340,470 |
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 | NA | BeFree | Detail | |
| 0.005 | Colonic Neoplasms | NA | LHGDN | Detail | |
| 0.013 | Colonic Polyps | NA | BeFree,GAD,LHGDN | Detail | |
| 0.028 | colorectal carcinoma | Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (freq... | BeFree | 24518836 | Detail |
| 0.028 | colorectal carcinoma | The second cohort contained 921 patients with colorectal cancer <50 years and <1... | BeFree | 24620956 | Detail |
| 0.028 | colorectal carcinoma | A recently described biallelic mutation of MYH, is responsible for adenomatous p... | BeFree | 24643704 | Detail |
| 0.028 | colorectal carcinoma | We investigated whether 18 common colorectal cancer (CRC) predisposition single-... | BeFree | 24801760 | Detail |
| 0.028 | colorectal carcinoma | Germline and somatic mutations in BER genes, such as MutY Homolog (MUTYH/MYH) an... | BeFree | 25030372 | Detail |
| 0.028 | colorectal carcinoma | To uncover novel causative genes in patients with unexplained adenomatous polypo... | BeFree | 25219767 | Detail |
| 0.028 | colorectal carcinoma | In 6 of the 21 families (29%), we identified 7 mutations in 3 known CRC predispo... | BeFree | 25892863 | Detail |
| 0.028 | colorectal carcinoma | Secondly, the germline MUTYH gene sequence was analyzed in patients carrying c.3... | BeFree | 26056087 | Detail |
| 0.028 | colorectal carcinoma | Distinct functional consequences of MUTYH variants associated with colorectal ca... | BeFree | 26377631 | Detail |
| 0.056 | Colorectal Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Hereditary nonpolyposis colorectal neoplasms | NA | GAD | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | Association of AluYb8 insertion/deletion polymorphism in the MUTYH gene with mtD... | BeFree | 25829257 | Detail |
| <0.001 | Digestive System Disorders | NA | BeFree | Detail | |
| 0.003 | Endometrial Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Gastrointestinal Diseases | NA | BeFree | Detail | |
| 0.002 | Glioma | NA | GAD | Detail | |
| 0.002 | Graft-vs-Host Disease | NA | GAD | Detail | |
| <0.001 | HIV Infections | However, the HIV integration site sequence preference at G:C base pairs is alter... | BeFree | 25051054 | Detail |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| <0.001 | Huntington disease | NA | BeFree | Detail | |
| <0.001 | Intestinal Neoplasms | NA | BeFree | Detail | |
| <0.001 | Kidney Failure, Chronic | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| 0.002 | Meningeal Neoplasms | NA | GAD | Detail | |
| 0.003 | meningioma | NA | BeFree,GAD | Detail | |
| 0.002 | multiple sclerosis | NA | GAD | Detail | |
| 0.002 | acoustic neuroma | NA | GAD | Detail | |
| 0.002 | Occupational Diseases | NA | GAD | Detail | |
| 0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
| 0.180 | Adenomatous Polyposis Coli | A recently described biallelic mutation of MYH, is responsible for adenomatous p... | BeFree,CTD_human,GAD,LHGDN | 24643704 | Detail |
| 0.180 | Adenomatous Polyposis Coli | Screening of the APC and human mutY homolog (MUTYH) genes for germline mutations... | BeFree,CTD_human,GAD,LHGDN | 24664542 | Detail |
| 0.006 | polyps | Of these, 13 did not have a personal or family history of polyps and would not h... | BeFree,LHGDN | 24620956 | Detail |
| 0.006 | polyps | One patient did not have any polyp or family history and did not fulfill criteri... | BeFree,LHGDN | 26056087 | Detail |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| <0.001 | kidney failure | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of mouth | NA | GAD | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| 0.003 | Adenomatous Polyps | NA | BeFree,GAD | Detail | |
| <0.001 | sebaceous adenocarcinoma | Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (freq... | BeFree | 24518836 | Detail |
| <0.001 | cholangiocarcinoma | NA | BeFree | Detail | |
| 0.120 | pilomatrixoma | NA | CTD_human | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.009 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | age related macular degeneration | NA | BeFree | Detail | |
| 0.003 | Cancer of Head and Neck | XPD, APE1, and MUTYH polymorphisms increase head and neck cancer risk: effect of... | BeFree,GAD | 25916209 | Detail |
| <0.001 | Hyperplastic Polyp | NA | BeFree | Detail | |
| 0.013 | Multiple polyps | MYH polyposis syndrome: clinical findings, genetics issues and management. | BeFree | 24643704 | Detail |
| 0.013 | Multiple polyps | Germline mutations in the MUTYH gene are linked to colorectal polyposis and a hi... | BeFree | 26377631 | Detail |
| <0.001 | Multiple adenomatous polyps | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| <0.001 | juvenile polyposis syndrome | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of liver | 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 | |
| 0.002 | Hematologic Neoplasms | NA | GAD | Detail | |
| <0.001 | Duodenal Cancer | NA | BeFree | Detail | |
| 0.003 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.001 | breast carcinoma | NA | BeFree | Detail | |
| 0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of gastrointestinal tract | NA | BeFree | Detail | |
| 0.121 | stomach carcinoma | NA | BeFree,UNIPROT | Detail | |
| 0.005 | Microsatellite Instability | NA | GAD | Detail | |
| <0.001 | Polyp of large intestine | NA | BeFree | Detail | |
| <0.001 | High-Grade Prostatic Intraepithelial Neoplasia | NA | BeFree | Detail | |
| 0.002 | Intestinal Polyposis | NA | GAD | Detail | |
| 0.012 | Adenoma of large intestine | The second cohort contained 921 patients with colorectal cancer <50 years and <1... | BeFree | 24620956 | Detail |
| <0.001 | Torre-Muir syndrome | NA | BeFree | Detail | |
| <0.001 | Hereditary Malignant Neoplasm | NA | BeFree | Detail | |
| 0.003 | Hereditary Nonpolyposis Colorectal Cancer | Biallelic MUTYH mutations can mimic Lynch syndrome. | BeFree | 24518836 | Detail |
| 0.003 | Hereditary Nonpolyposis Colorectal Cancer | An additional 9 individuals carried mutations in other genes linked to high life... | BeFree | 25980754 | Detail |
| 0.106 | colorectal cancer | Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (freq... | BeFree,GAD | 24518836 | Detail |
| 0.106 | colorectal cancer | The second cohort contained 921 patients with colorectal cancer <50 years and <1... | BeFree,GAD | 24620956 | Detail |
| 0.106 | colorectal cancer | A recently described biallelic mutation of MYH, is responsible for adenomatous p... | BeFree,GAD | 24643704 | Detail |
| 0.106 | colorectal cancer | We investigated whether 18 common colorectal cancer (CRC) predisposition single-... | BeFree,GAD | 24801760 | Detail |
| 0.106 | colorectal cancer | Germline and somatic mutations in BER genes, such as MutY Homolog (MUTYH/MYH) an... | BeFree,GAD | 25030372 | Detail |
| 0.106 | colorectal cancer | To uncover novel causative genes in patients with unexplained adenomatous polypo... | BeFree,GAD | 25219767 | Detail |
| 0.106 | colorectal cancer | In 6 of the 21 families (29%), we identified 7 mutations in 3 known CRC predispo... | BeFree,GAD | 25892863 | Detail |
| 0.106 | colorectal cancer | Secondly, the germline MUTYH gene sequence was analyzed in patients carrying c.3... | BeFree,GAD | 26056087 | Detail |
| 0.106 | colorectal cancer | Distinct functional consequences of MUTYH variants associated with colorectal ca... | BeFree,GAD | 26377631 | Detail |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.002 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | GAD | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Chronic kidney disease stage 5 | NA | BeFree | Detail | |
| 0.002 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | NA | BeFree | Detail | |
| 0.012 | MUTYH-Associate Polyposis | Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-ass... | BeFree | 24620956 | Detail |
| 0.012 | MUTYH-Associate Polyposis | These results underscore the diversity of functional consequences due to MUTYH v... | BeFree | 26377631 | Detail |
| <0.001 | liver carcinoma | Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... | BeFree | 16109524 | Detail |
| 0.003 | adenocarcinoma | NA | BeFree,LHGDN | Detail | |
| 0.035 | adenoma | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Alzheimer's disease | Variants of Base Excision Repair Genes MUTYH , PARP1 and XRCC1 in Alzheimer's Di... | BeFree | 25998844 | Detail |
| <0.001 | Amputation Stumps | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| 0.002 | Brain Neoplasms | NA | GAD | Detail | |
| 0.006 | 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 | |
| <0.001 | Rectal Carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CR... | DisGeNET | Detail |
| The second cohort contained 921 patients with colorectal cancer <50 years and <10 reported colorecta... | DisGeNET | Detail |
| A recently described biallelic mutation of MYH, is responsible for adenomatous polyposis with an inc... | DisGeNET | Detail |
| We investigated whether 18 common colorectal cancer (CRC) predisposition single-nucleotide polymorph... | DisGeNET | Detail |
| Germline and somatic mutations in BER genes, such as MutY Homolog (MUTYH/MYH) and DNA-directed polym... | DisGeNET | Detail |
| To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease... | DisGeNET | Detail |
| In 6 of the 21 families (29%), we identified 7 mutations in 3 known CRC predisposing genes including... | DisGeNET | Detail |
| Secondly, the germline MUTYH gene sequence was analyzed in patients carrying c.34G>T in CRCs diagnos... | DisGeNET | Detail |
| Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA af... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of AluYb8 insertion/deletion polymorphism in the MUTYH gene with mtDNA maintain in the t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| However, the HIV integration site sequence preference at G:C base pairs is altered at several positi... | 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 recently described biallelic mutation of MYH, is responsible for adenomatous polyposis with an inc... | DisGeNET | Detail |
| Screening of the APC and human mutY homolog (MUTYH) genes for germline mutations was conducted by di... | DisGeNET | Detail |
| Of these, 13 did not have a personal or family history of polyps and would not have met guidelines f... | DisGeNET | Detail |
| One patient did not have any polyp or family history and did not fulfill criteria for MUTYH testing. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CR... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| XPD, APE1, and MUTYH polymorphisms increase head and neck cancer risk: effect of gene-gene and gene-... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MYH polyposis syndrome: clinical findings, genetics issues and management. | DisGeNET | Detail |
| Germline mutations in the MUTYH gene are linked to colorectal polyposis and a high risk of colorecta... | 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 |
| The second cohort contained 921 patients with colorectal cancer <50 years and <10 reported colorecta... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Biallelic MUTYH mutations can mimic Lynch syndrome. | DisGeNET | Detail |
| An additional 9 individuals carried mutations in other genes linked to high lifetime risks of cancer... | DisGeNET | Detail |
| Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CR... | DisGeNET | Detail |
| The second cohort contained 921 patients with colorectal cancer <50 years and <10 reported colorecta... | DisGeNET | Detail |
| A recently described biallelic mutation of MYH, is responsible for adenomatous polyposis with an inc... | DisGeNET | Detail |
| We investigated whether 18 common colorectal cancer (CRC) predisposition single-nucleotide polymorph... | DisGeNET | Detail |
| Germline and somatic mutations in BER genes, such as MutY Homolog (MUTYH/MYH) and DNA-directed polym... | DisGeNET | Detail |
| To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease... | DisGeNET | Detail |
| In 6 of the 21 families (29%), we identified 7 mutations in 3 known CRC predisposing genes including... | DisGeNET | Detail |
| Secondly, the germline MUTYH gene sequence was analyzed in patients carrying c.34G>T in CRCs diagnos... | DisGeNET | Detail |
| Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA af... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. | DisGeNET | Detail |
| These results underscore the diversity of functional consequences due to MUTYH variants that may imp... | DisGeNET | Detail |
| Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Variants of Base Excision Repair Genes MUTYH , PARP1 and XRCC1 in Alzheimer's Disease Risk. | 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
- rs3218170 dbSNP
- Genome
- hg38
- Position
- chr1:45,329,163-45,340,470
- Variant Type
- snv
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