NOTCH1 Chromosome 9
Notch receptor 1
Upload your DNA to see your personal genotypes for variants in NOTCH1.
What This Gene Does
This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Notch receptors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000148400
Associated Conditions (42)
Familial thoracic aortic aneurysm and aortic dissection
Adams-Oliver syndrome 5
Aortic valve disease 1
Diffuse midline glioma
H3 K27M-mutant
NOTCH1-related disorder
Connective tissue disorder
Aortic valve disorder
Chronic adenoiditis
Cholesteatoma of middle ear
Neurofibromatosis
type 1
Heart
malformation of
Adams-Oliver syndrome 2
Pulmonary arterial hypertension
Anophthalmia-microphthalmia syndrome
Arterial dissection
Cataract
Marfan syndrome
+22 more conditions
Key Variants
RS1002136018
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1018501056
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1020747496
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Aortic valve disease 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1027492078
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
Health Risk
RS1037236860
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Aortic valve disease 1, Adams-Oliver syndrome 5
Health Risk
RS1055326153
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
Health Risk
RS1057523819
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Diffuse midline glioma
Health Risk
RS1060502233
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
Health Risk
RS1060502236
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Aortic valve disease 1
Health Risk
RS1060502238
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
Health Risk
RS1064795070
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
Health Risk
RS1085307562
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
Health Risk
All Variants (674)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS954507677 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 5, Aortic valve disorder, Familial thoracic aortic aneurysm and aortic dissection |
| RS974424401 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5 |
| RS976118697 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5 |
| RS979299004 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS981281975 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5 |
| RS984769025 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 5, NOTCH1-related disorder, Familial thoracic aortic aneurysm and aortic dissection |
| RS990403823 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5 |
| RS995707317 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5 |
| RS998433493 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection, NOTCH1-related disorder |
| RS754529382 | Health Risk | Conflicting classifications of pathogenicity; other | Adams-Oliver syndrome 5, Aortic valve disease 1, Adams-Oliver syndrome 5 |
| RS1057518096 | Health Risk | Likely pathogenic | — |
| RS1057521857 | Health Risk | Likely pathogenic | — |
| RS1064796867 | Health Risk | Likely pathogenic | — |
| RS1271941628 | Health Risk | Likely pathogenic | Aortic valve disease 1, Aortic valve disease 1 |
| RS1293276034 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS1554727954 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, NOTCH1-related disorder, Adams-Oliver syndrome 5 |
| RS1554730758 | Health Risk | Likely pathogenic | — |
| RS1589066272 | Health Risk | Likely pathogenic | Heart, malformation of, Heart |
| RS1843006535 | Health Risk | Likely pathogenic | Hypoplastic left heart syndrome, Hypoplastic left heart syndrome |
| RS1843055667 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Aortic valve disease 1, Adams-Oliver syndrome 5 |
| RS1843150542 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS1843152606 | Health Risk | Likely pathogenic | Hypoplastic left heart syndrome, Adams-Oliver syndrome 5, Hypoplastic left heart syndrome |
| RS1843175014 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS1843262329 | Health Risk | Likely pathogenic | Hypoplastic left heart syndrome, Hypoplastic left heart syndrome |
| RS1843413593 | Health Risk | Likely pathogenic | Aortic valve disease 1, Aortic valve disease 1 |
| RS202235419 | Health Risk | Likely pathogenic | Hypoplastic left heart syndrome, Hypoplastic left heart syndrome |
| RS2133325416 | Health Risk | Likely pathogenic | Aortic valve disease 1, Aortic valve disease 1 |
| RS2133328514 | Health Risk | Likely pathogenic | — |
| RS2133337914 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS2133338569 | Health Risk | Likely pathogenic | — |
| RS2133343317 | Health Risk | Likely pathogenic | NOTCH1-related disorder, NOTCH1-related disorder |
| RS2133345379 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS2133358321 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS2133361331 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS2133364454 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS2133369963 | Health Risk | Likely pathogenic | — |
| RS2133377568 | Health Risk | Likely pathogenic | — |
| RS2133408684 | Health Risk | Likely pathogenic | — |
| RS2540421105 | Health Risk | Likely pathogenic | Aortic valve disease 1, Aortic valve disease 1 |
| RS2540457665 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS2540462269 | Health Risk | Likely pathogenic | — |
| RS2540492451 | Health Risk | Likely pathogenic | — |
| RS376236888 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Adams-Oliver syndrome 5 |
| RS515726231 | Health Risk | Likely pathogenic | Heart, malformation of, Heart |
| RS515726232 | Health Risk | Likely pathogenic | Heart, malformation of, Heart |
| RS515726233 | Health Risk | Likely pathogenic | Heart, malformation of, Heart |
| RS748813647 | Health Risk | Likely pathogenic | Aortic valve disease 1, Adams-Oliver syndrome 5, Aortic valve disease 1 |
| RS757495549 | Health Risk | Likely pathogenic | Aortic valve disease 1, Aortic valve disease 1 |
| RS764006572 | Health Risk | Likely pathogenic | NOTCH1-related disorder, NOTCH1-related disorder |
| RS779058908 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 5, Aortic valve disease 1, Adams-Oliver syndrome 5 |