chr3:169764610:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:169,482,398-169,482,835 |
| hg38 | chr3:169,764,610-169,765,047 |
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 |
|---|---|---|---|---|---|
| 0.120 | squamous cell carcinoma | NA | BeFree,CTD_human | Detail | |
| <0.001 | Carcinoma, Transitional Cell | NA | BeFree | Detail | |
| 0.003 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
| 0.002 | Cerebrovascular Disorders | NA | GAD | Detail | |
| <0.001 | Malignant tumor of cervix | Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and c... | BeFree | 25433838 | Detail |
| <0.001 | choriocarcinoma | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| <0.001 | Mental Depression | NA | BeFree | Detail | |
| <0.001 | depressive disorder | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | Sequencing techniques were used to evaluate mutational status of telomerase reve... | BeFree | 24983628 | Detail |
| <0.001 | Glioma | NA | BeFree | Detail | |
| 0.003 | Hemoglobinuria, Paroxysmal | NA | LHGDN | Detail | |
| <0.001 | hepatitis C | NA | BeFree | Detail | |
| <0.001 | Hydatidiform mole | NA | BeFree | Detail | |
| <0.001 | pulmonary hypertension | Telomere length differed between TERC(-/-) and TERT(-/-) mice, whereas PH severi... | BeFree | 25550449 | Detail |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| 0.003 | Leukemia, Myelocytic, Acute | NA | BeFree,GAD | Detail | |
| <0.001 | liver cirrhosis | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.003 | Neural Tube Defects | NA | LHGDN | Detail | |
| 0.003 | osteoporosis | NA | BeFree,GAD | Detail | |
| 0.001 | pancytopenia | NA | BeFree | Detail | |
| <0.001 | Preleukemia | NA | BeFree | Detail | |
| 0.120 | Prostatic Neoplasms | NA | CTD_human | Detail | |
| 0.003 | pulmonary fibrosis | Mutations in TERTor TERC account for only 19% of familial pulmonary fibrosis cas... | BeFree,GAD | 26016050 | Detail |
| <0.001 | schizophrenia | NA | BeFree | Detail | |
| 0.003 | systemic scleroderma | NA | BeFree,GAD | Detail | |
| 0.120 | Tongue Neoplasms | NA | CTD_human | Detail | |
| <0.001 | Li-Fraumeni syndrome | NA | BeFree | Detail | |
| <0.001 | esophageal carcinoma | Sequencing techniques were used to evaluate mutational status of telomerase reve... | BeFree | 24983628 | Detail |
| <0.001 | lingual-facial-buccal dyskinesia | NA | BeFree | Detail | |
| <0.001 | Idiopathic pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Lichen Planus, Oral | NA | BeFree | Detail | |
| 0.001 | Cervical Intraepithelial Neoplasia | Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and c... | BeFree | 25433838 | Detail |
| <0.001 | Neuroendocrine Tumors | Telomere length abnormalities and telomerase RNA component expression in gastroe... | BeFree | 26026117 | Detail |
| <0.001 | pancreatic carcinoma | We performed an in-depth analysis of genetic variability of the telomerase rever... | BeFree | 25940397 | Detail |
| <0.001 | Papillary thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| 0.272 | dyskeratosis congenita | Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and s... | BeFree,CTD_human,GAD,LHGDN,ORPHANET | 25237198 | Detail |
| <0.001 | Cholestasis of pregnancy | This study suggested that overexpression of ERp29 may play a key role in TCA-ind... | BeFree | 24780196 | Detail |
| <0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| <0.001 | diffuse astrocytoma | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and c... | BeFree | 25433838 | Detail |
| <0.001 | Superficial ulcer | Mutations in TERTor TERC account for only 19% of familial pulmonary fibrosis cas... | BeFree | 26016050 | Detail |
| <0.001 | High-Grade Squamous Intraepithelial Lesions | NA | BeFree | Detail | |
| <0.001 | Chronic liver disease | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | We performed an in-depth analysis of genetic variability of the telomerase rever... | BeFree | 25940397 | Detail |
| 0.120 | Aplastic anemia, idiopathic | NA | BeFree,ORPHANET | Detail | |
| 0.001 | Cervical intraepithelial neoplasia grade 1 | NA | BeFree | Detail | |
| <0.001 | Cervical intraepithelial neoplasia grade 2 | NA | BeFree | Detail | |
| <0.001 | Sleep Apnea, Obstructive | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | Sequencing techniques were used to evaluate mutational status of telomerase reve... | BeFree | 24983628 | Detail |
| <0.001 | Thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| 0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | schizophrenia | While further research into the molecular mechanisms underlying this interaction... | BeFree | 19352591 | Detail |
| <0.001 | invasive cancer | NA | BeFree | Detail | |
| 0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Tardive Dyskinesia | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | Multivariate regression analysis showed that lymph node metastasis and high TERC... | BeFree | 26026117 | Detail |
| <0.001 | Carcinoma in situ of uterine cervix | NA | BeFree | Detail | |
| 0.003 | ovarian neoplasm | NA | LHGDN | Detail | |
| <0.001 | Mental Retardation, X-Linked | We studied telomere length abnormalities, telomerase RNA component (TERC) expres... | BeFree | 26026117 | Detail |
| <0.001 | attention deficit hyperactivity disorder | NA | BeFree | Detail | |
| 0.001 | Low Grade Squamous Intraepithelial Neoplasia | NA | BeFree | Detail | |
| <0.001 | Atypical Adenomatous Lung Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Invasive Carcinoma | NA | BeFree | Detail | |
| <0.001 | alpha^+^ Thalassemia | We studied telomere length abnormalities, telomerase RNA component (TERC) expres... | BeFree | 26026117 | Detail |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Neoplasms, Intracranial | NA | BeFree | Detail | |
| <0.001 | Cirrhosis | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| 0.361 | Idiopathic Pulmonary Fibrosis | Mutations in telomerase complex genes (TERT or TERC) and short telomeres are gen... | BeFree,CLINVAR,CTD_human,ORPHANET | 24993703 | Detail |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Idiopathic Interstitial Pneumonias | NA | BeFree | Detail | |
| <0.001 | Chronic thromboembolic pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| <0.001 | myeloid neoplasm | NA | BeFree | Detail | |
| <0.001 | thyroid hormone resistance syndrome | NA | BeFree | Detail | |
| <0.001 | Inherited bone marrow failure syndrome | NA | BeFree | Detail | |
| <0.001 | Idiopathic pulmonary arterial hypertension | NA | BeFree | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | alpha-Thalassemia | We studied telomere length abnormalities, telomerase RNA component (TERC) expres... | BeFree | 26026117 | Detail |
| 0.003 | Anoxia | NA | LHGDN | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| 0.003 | ataxia telangiectasia | NA | LHGDN | Detail | |
| 0.005 | Bone Marrow Diseases | NA | GAD | Detail | |
| <0.001 | borderline personality disorder | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and cervical cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sequencing techniques were used to evaluate mutational status of telomerase reverse transcriptase (T... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Telomere length differed between TERC(-/-) and TERT(-/-) mice, whereas PH severity was similar in th... | 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 |
| Mutations in TERTor TERC account for only 19% of familial pulmonary fibrosis cases, and it is likely... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sequencing techniques were used to evaluate mutational status of telomerase reverse transcriptase (T... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and cervical cancer. | DisGeNET | Detail |
| Telomere length abnormalities and telomerase RNA component expression in gastroenteropancreatic neur... | DisGeNET | Detail |
| We performed an in-depth analysis of genetic variability of the telomerase reverse transcriptase (TE... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive chil... | DisGeNET | Detail |
| This study suggested that overexpression of ERp29 may play a key role in TCA-induced apoptosis in HT... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Amplification of TERT and TERC genes in cervical intraepithelial neoplasia and cervical cancer. | DisGeNET | Detail |
| Mutations in TERTor TERC account for only 19% of familial pulmonary fibrosis cases, and it is likely... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We performed an in-depth analysis of genetic variability of the telomerase reverse transcriptase (TE... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sequencing techniques were used to evaluate mutational status of telomerase reverse transcriptase (T... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| While further research into the molecular mechanisms underlying this interaction is needed, our resu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Multivariate regression analysis showed that lymph node metastasis and high TERC expression were ind... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We studied telomere length abnormalities, telomerase RNA component (TERC) expression, alpha-thalasse... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We studied telomere length abnormalities, telomerase RNA component (TERC) expression, alpha-thalasse... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in telomerase complex genes (TERT or TERC) and short telomeres are genetic risk factors fo... | 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 |
| We studied telomere length abnormalities, telomerase RNA component (TERC) expression, alpha-thalasse... | 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
- rs386602276 dbSNP
- Genome
- hg38
- Position
- chr3:169,764,610-169,765,047
- Variant Type
- snv
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