Gene entry
NOTCH3
notch receptor 3
- Chromosome
- 19
- Cytoband
- 19p13.12
- Variants (rsID)
- 28
NOTCH3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.12). Its official name is “notch receptor 3”. The reference table lists 28 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs10408676Benignsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs1043996Benignsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Lateral meningocele syndrome
- rs115582213Benignsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs11670799Benignsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs12082Benignsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs141320511Benignsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs147373451Benignsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs78501403Benignsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs115029695Conflicting interpretationssingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs201680145Conflicting interpretationssingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- rs137852642Pathogenicsingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Recurrent subcortical infarcts
- rs796065045Pathogenicsingle nucleotide variantLateral meningocele syndrome
- rs869312910Pathogenicsingle nucleotide variantLateral meningocele syndrome
- rs869312911Pathogenicsingle nucleotide variantLateral meningocele syndrome
- rs371491165Uncertain significancesingle nucleotide variantCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Lateral meningocele syndrome|Myofibromatosis, infantile, 2
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.