SNPMiner Trials by Shray Alag

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Report for Mutation C686A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia

The purpose of this study is to compare the demographic, metabolic, and genomic characteristics of patients who develop severe hyperbilirubinemia to patients who never developed a significant bilirubin level.

NCT00383318 Hyperbilirubinemia Jaundice Procedure: Gene mutation sample
MeSH:Jaundice Hyperbilirubinemia

The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A --- --- C686A ---

HPO Nodes