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
HPO:Jaundice

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

HP:0000952: Jaundice
Genes 219
CASR UGT1A1 KMT2E LBR SPTB SPTB CDIN1 CPOX EPB42 PEX16 ATP11C KCNN4 COG7 TREX1 PARS2 SPTB TBX19 PRKAR1A EPB41 ABCC2 GPR35 UGT1A1 RNU4ATAC HNF4A CPA1 EPB41 PEX1 ABCB4 PEX5 PIEZO1 RHAG HESX1 ALDOB HBG2 ATP7A ABCB11 PEX6 SPINK1 HNF1B SAMHD1 PEX26 AKR1D1 ATP8B1 PALLD AKR1D1 TCF4 CDKN2A LHX3 MPV17 GCLC PEX19 PRSS2 TTC37 NPC2 HSD3B7 UGT1A1 PKLR PALB2 PEX10 DHFR OCLN PFKM ANK1 CASK CLDN1 ALDOB KRAS SP110 ACADVL TREX1 SMAD4 ACADL TBX19 TPI1 BPGM ABCC2 MST1 PEX12 NKX2-5 SPTA1 CFTR ABCB4 NBAS VPS33B F5 CYP7B1 ABCD3 SLCO1B3 ATP6AP1 KRT8 UGT1A1 NR1H4 ETFA TNPO3 RNASEH2B ATP7A GYPC GLRX5 IER3IP1 RHAG DUOXA2 ATP8B1 HSD3B7 SLC25A13 ANK1 CYP7B1 PEX1 SLC2A1 SLC26A4 PAX8 NPC1 SLC4A1 TSHR PEX14 JAG1 ATP8B1 SPIB PRF1 RHAG GPC1 PROP1 PEX11B ETFB SLCO1B3 POU1F1 IL2RG LHX4 HBB TPO FLI1 TSHB DGUOK ATP7B GALK1 SLC30A10 SLCO1B1 SLC5A5 POLG2 SEC23B PEX26 KCNN4 SLCO1B1 DCDC2 POU2AF1 LBR RAB27A COX4I2 HBB PKLR PEX5 TFAM SPTB DUOX2 BRCA1 ADAR TP53 IFIH1 CTRC VIPAS39 ABCB11 PAX8 PTPN3 PRSS1 HBB IL12A CCDC115 SERPINA1 LPL G6PD IYD BRCA2 ETFDH PRPS1 PEX2 TG HMGCL POU1F1 SMPD1 IL12RB1 CTCF SLC4A1 ABCB4 ADAMTS13 SPTA1 GPI RNASEH2C PEX13 KRT18 HK1 TSHR MMEL1 HBB PIEZO1 JAK2 GALT LIPA IRF5 RNASEH2A CDAN1 LYST UGT1A1 PEX16 PEX3 DPAGT1 TRMU CLDN1 PEX3 EIF2AK3 PEPD SLC2A1 SLC4A1 TRHR GALE TNFSF15 PEX2 AMACR PEX14 EPB42 ALDOA
Protein Mutations 8
C1091T C563T C686A G1376T G1388A G202A G211A T1456G
SNP 0