rs3134942
This is a synonymous variant in the NOTCH4 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
MHC class I polypeptide-related sequence A measurement
hemoglobin measurement
omega-6 polyunsaturated fatty acid measurement
▶ClinVar annotation
not provided; Cholangiocarcinoma; Uterine carcinosarcoma; Thymoma; Adrenocortical carcinoma, hereditary
View on ClinVar →▶Research that mentions this SNP (1)
▶NOTCH4 is a possible novel susceptibility gene for dilated cardiomyopathy in the Chinese population: A case‐control studyAssociationN=821Xiaoqing Shi et al.(2018)· Journal of Clinical Laboratory Analysis
A case-control study of 273 DCM patients and 548 controls in the Chinese Han population examined seven genetic variants associated with cardiac neonatal lupus. The study found that the T allele of rs3134942 in NOTCH4 increased DCM risk by 61% (OR=1.61, 95% CI: 1.15-2.27, P=6.57×10⁻³) in additive and dominant models. Additionally, rs2472299 in CYP1A2 was associated with reduced DCM risk in the dominant model (OR=0.72, P=4.24×10⁻²) and correlated with smoking status in patients.
About NOTCH4
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 may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
View all NOTCH4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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