rs61731975
This variant is located in the NOTCH3 gene.
▶ClinVar annotation
not specified; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Usher syndrome type 1 due to missense mutations on bothCDH23 alleles: investigation of mRNA splicingAssociationN=1,725Elvir Becirovic et al.(2008)· Human Mutation
This case-control association study sequenced all 33 exons of NOTCH3 in 269 familial ischemic stroke probands and identified variants associated with ischemic stroke risk in Caucasian populations. The most significant finding was rs78501403 (p.R1560P, exon 25), which showed a protective effect against ischemic stroke (OR=0.50, P=0.0022) in the combined Caucasian series (721 cases, 1,004 controls). Additional findings included rs3815188 (p.T101T) associated with increased small-vessel stroke risk (P=0.008) and rs61749020 (p.P380P) associated with decreased large-vessel stroke risk (P=0.047).
About NOTCH3
This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
View all NOTCH3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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