SNPMiner Trials by Shray Alag

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Report for Mutation C563T

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 gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A --- --- C563T ---


HPO Nodes

HP:0000952: Jaundice
Genes 221
IL2RG IYD ATP7A ATP7A PEX13 PRF1 PAX8 NR1H4 ABCB4 TNFSF15 PEX1 TCF4 PEX6 IER3IP1 CASR SLCO1B1 SLC30A10 SPINK1 PEX26 EPB41 HSD3B7 TBX19 HBB ETFDH GLRX5 CTCF ATP8B1 PEX12 CPOX PTPN3 ABCB11 KRT8 CASK RNASEH2B COG7 POLG2 SPTB ABCB11 MST1 PKLR LBR FLI1 AKR1D1 SPTA1 SLCO1B1 TRMU NKX2-5 PEX2 PEX11B DHFR PEX14 ATP7B PEX3 OCLN HBB KMT2E IFIH1 TPI1 CTRC TFAM ANK1 KRT18 EIF2AK3 KRAS PALB2 EPB42 ACADL POU2AF1 RHAG RNASEH2A DCDC2 ADAMTS13 PEX5 PARS2 HBB LHX3 TG VPS33B TPO GYPC SLCO1B3 RHAG SPTB CDAN1 DGUOK ADAR HBG2 ATP8B1 TTC37 IL12RB1 IRF5 RHAG ALDOB TRHR SPINK1 IL12A SEC23B GALE PEX26 SLC4A1 HSD3B7 F5 PAX8 PRSS1 SLC2A1 PEX19 CCDC115 EPB41 LIPA SERPINA1 CFTR LBR TNPO3 SLC4A1 ATP11C TSHR CLDN1 PIEZO1 ABCB4 PRKAR1A NPC2 PEPD SPTA1 SLC5A5 DUOX2 LPL PRSS1 ABCC2 GPI TBX19 AKR1D1 HBB ETFA SMAD4 POU1F1 PRPS1 PEX14 POU1F1 PIEZO1 PEX16 BRCA2 EPB42 CTRC DUOXA2 AMACR PFKM LHX4 C15ORF41 HMGCL RNU4ATAC NPC1 SLC4A1 PEX5 HNF4A RNASEH2C JAG1 ABCB4 ABCD3 ALDOA UGT1A1 ATP8B1 JAK2 SMPD1 NBAS GPR35 PEX3 ACADVL KCNN4 TREX1 PEX10 TSHB SLC2A1 HESX1 BPGM CPA1 SAMHD1 TP53 RAB27A KCNN4 ALDOB PRSS2 CLDN1 LYST UGT1A1 PKLR UGT1A1 PROP1 PEX2 CYP7B1 PEX16 CYP7B1 UGT1A1 PALLD ABCC2 VIPAS39 SPTB GCLC COX4I2 TREX1 ATP6AP1 SLC25A13 MMEL1 CDKN2A MPV17 GALT ANK1 SP110 PEX1 TSHR SPIB UGT1A1 GPC1 HK1 HNF1B BRCA1 SLC26A4 SLCO1B3 G6PD GALK1 ETFB DPAGT1
Protein Mutations 8
C1091T C563T C686A G1376T G1388A G202A G211A T1456G
SNP 0