rs5335
This is a regulatory region variant variant in the EDNRA gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patientsReviewMehmet Okyay Kılınç et al.(2002)· American Journal of Medical Genetics
This review discusses modifier genes (additional genetic factors) that influence the severity and presentation of monogenic disorders. The paper identifies and summarizes modifier genes for three common autosomal recessive diseases: spinal muscular atrophy (SMA, with modifiers SMN2, PLS3, ZPR1), familial Mediterranean fever (FMF, with modifiers MICA and SAA1), and cystic fibrosis (CF, with modifiers MBL2, TGFβ1, IFRD1, IL-8, and EDNRA). These findings demonstrate that genotype does not always predict phenotype, and explain variability in disease severity through gene-gene interactions.
About EDNRA
This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
View all EDNRA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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