chr10:88934822:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:90,694,579-90,751,096 |
| hg38 | chr10:88,934,822-88,991,339 |
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 | Cardiomyopathy, Dilated | NA | BeFree | Detail | |
| <0.001 | hypertrophic cardiomyopathy | NA | BeFree | Detail | |
| 0.120 | Colonic Neoplasms | NA | CTD_human | Detail | |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| <0.001 | patent ductus arteriosus | Mutations in ACTA2 gene were not detected in patients with PDA, thus being exclu... | BeFree | 25861618 | Detail |
| 0.120 | endometriosis | NA | CTD_human | Detail | |
| <0.001 | Fibromuscular Dysplasia | NA | BeFree | Detail | |
| 0.120 | Focal glomerulosclerosis | NA | CTD_human | Detail | |
| <0.001 | Heart Septal Defects | NA | BeFree | Detail | |
| <0.001 | Atrial Septal Defects | NA | BeFree | Detail | |
| 0.120 | Hepatitis, Chronic | NA | CTD_human | Detail | |
| 0.120 | ischemia | NA | CTD_human | Detail | |
| 0.120 | Kidney Diseases | NA | CTD_human | Detail | |
| 0.120 | chronic lymphocytic leukemia | NA | GWASCAT | Detail | |
| 0.120 | liver cirrhosis | NA | CTD_human | Detail | |
| 0.120 | Liver diseases | NA | CTD_human | Detail | |
| 0.002 | Lung Neoplasms | NA | GAD | Detail | |
| 0.003 | Marfan syndrome | NA | BeFree,GAD | Detail | |
| 0.122 | Moyamoya disease | Recently, mutations in human RNF213 and ACTA2 genes were identified to be respon... | BeFree,ORPHANET | 25956231 | Detail |
| <0.001 | Mydriasis | NA | BeFree | Detail | |
| 0.120 | myocardial infarction | Here we examined the risk of aortic dissections, stroke and myocardial infarct w... | BeFree,CTD_human | 24243736 | Detail |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.003 | osteosarcoma | NA | LHGDN | Detail | |
| <0.001 | prune belly syndrome | Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. | BeFree | 24998021 | Detail |
| 0.001 | Cerebrovascular accident | ACTA2 mutations have recently been shown to cause a multisystem smooth muscle dy... | BeFree | 24353327 | Detail |
| 0.002 | Vascular Diseases | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | Congenital anomaly of cerebrovascular system | This case illustrates the spectrum of systemic malformations that are attributab... | BeFree | 24998021 | Detail |
| 0.126 | Aortic Aneurysm, Thoracic | Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as wel... | BeFree,CTD_human,GAD | 24243736 | Detail |
| <0.001 | Myopathies, Nemaline | NA | BeFree | Detail | |
| <0.001 | Metastatic malignant neoplasm to brain | NA | BeFree | Detail | |
| <0.001 | Acute aortic dissection | Acute aortic dissections with pregnancy in women with ACTA2 mutations. | BeFree | 24243736 | Detail |
| 0.120 | Malignant neoplasm of lung | NA | GWASCAT | Detail | |
| <0.001 | Aortic aneurysm without mention of rupture NOS | Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aort... | BeFree | 26034244 | Detail |
| <0.001 | Dissection of aorta | Women with ACTA2 mutations who are planning to get pregnant should be counseled ... | BeFree | 24243736 | Detail |
| <0.001 | Dissection of aorta | Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aort... | BeFree | 26034244 | Detail |
| <0.001 | Congenital aneurysm of ascending aorta | Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic ... | BeFree | 24020716 | Detail |
| <0.001 | Dissecting aneurysm of the thoracic aorta | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung, stage IV | NA | BeFree | Detail | |
| <0.001 | Cardiomyopathies | NA | BeFree | Detail | |
| 0.001 | Ischemic stroke | We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute is... | BeFree | 24353327 | Detail |
| <0.001 | Cardiomyopathy, Hypertrophic, Familial | NA | BeFree | Detail | |
| <0.001 | Mydriasis, Congenital | This case illustrates the spectrum of systemic malformations that are attributab... | BeFree | 24998021 | Detail |
| 0.120 | Nephrogenic Fibrosing Dermopathy | NA | CTD_human | Detail | |
| <0.001 | Aortic aneurysm and dissection | NA | BeFree | Detail | |
| 0.120 | Copper-Overload Cirrhosis | NA | CTD_human | Detail | |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| 0.003 | Loeys-Dietz syndrome | NA | BeFree,GAD | Detail | |
| 0.121 | Moyamoya disease 1 | Recently, mutations in human RNF213 and ACTA2 genes were identified to be respon... | BeFree,ORPHANET | 25956231 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute is... | BeFree | 24353327 | Detail |
| <0.001 | Congenital Abnormality | This case illustrates the spectrum of systemic malformations that are attributab... | BeFree | 24998021 | Detail |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Aneurysm | We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute is... | BeFree | 24353327 | Detail |
| <0.001 | Aneurysm | Genetic testing for ACTA2 mutations should be considered in all infants presenti... | BeFree | 26034244 | Detail |
| 0.002 | Aneurysm, Dissecting | NA | GAD | Detail | |
| 0.003 | aortic aneurysm | Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aort... | BeFree,LHGDN | 26034244 | Detail |
| <0.001 | Aortic Diseases | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in ACTA2 gene were not detected in patients with PDA, thus being excluded from the list of... | 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 |
| Recently, mutations in human RNF213 and ACTA2 genes were identified to be responsible for MMD. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here we examined the risk of aortic dissections, stroke and myocardial infarct with pregnancy in wom... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. | DisGeNET | Detail |
| ACTA2 mutations have recently been shown to cause a multisystem smooth muscle dysfunction syndrome t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This case illustrates the spectrum of systemic malformations that are attributable to mutations in A... | DisGeNET | Detail |
| Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as well as coronary artery... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Acute aortic dissections with pregnancy in women with ACTA2 mutations. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adu... | DisGeNET | Detail |
| Women with ACTA2 mutations who are planning to get pregnant should be counseled about this risk of a... | DisGeNET | Detail |
| Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adu... | DisGeNET | Detail |
| Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissec... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and pr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This case illustrates the spectrum of systemic malformations that are attributable to mutations in A... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recently, mutations in human RNF213 and ACTA2 genes were identified to be responsible for MMD. | DisGeNET | Detail |
| We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and pr... | DisGeNET | Detail |
| This case illustrates the spectrum of systemic malformations that are attributable to mutations in A... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and pr... | DisGeNET | Detail |
| Genetic testing for ACTA2 mutations should be considered in all infants presenting with ductal aneur... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adu... | 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
- -
- Genome
- hg38
- Position
- chr10:88,934,822-88,991,339
- Variant Type
- snv
Genome browser