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Report for Mutation G1388A

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 --- --- G1376T --- --- G1388A ---



HPO Nodes


Jaundice
Genes 217
PEX1 CLDN1 PIEZO1 IER3IP1 SPINK1 MPV17 HNF1B GALK1 CCDC115 PALLD POU2AF1 ATP8B1 TREX1 CTRC POU1F1 RHAG PAX8 ETFA SLC26A4 ATP8B1 UGT1A1 HMGCL PEX19 PEPD HK1 EPB41 NBAS PRPS1 DCDC2 G6PD VIPAS39 GPC1 TNFSF15 ABCC2 PEX3 HSD3B7 TREX1 ATP11C TSHR ABCB11 PKLR GLRX5 LYST TRMU GPR35 PRSS2 NPC2 CYP7B1 ALDOB UGT1A1 JAG1 PKLR BRCA2 DHFR NPC1 CPOX PARS2 SERPINA1 LHX3 SPTA1 PRF1 ABCB4 PAX8 ABCD3 KCNN4 GCLC PEX26 SEC23B HBB PRSS1 CLDN1 PEX5 KMT2E UGT1A1 IFIH1 DUOX2 LBR BPGM SLC4A1 SLC2A1 TBX19 CYP7B1 TP53 POU1F1 COG7 CASK SPIB CDAN1 ABCC2 MST1 ABCB4 PRSS1 SPTB AMACR ACADL IL12RB1 TG MMEL1 HNF4A FLI1 EIF2AK3 CDKN2A CFTR ATP7A SPTB TNPO3 RHAG RNU4ATAC SPTA1 ATP7B ACADVL F5 ATP7A PEX14 ABCB4 ATP8B1 EPB42 GYPC TTC37 PEX2 JAK2 PEX10 SLCO1B1 VPS33B IYD PEX1 UGT1A1 CPA1 OCLN PEX13 SLCO1B1 PEX5 HBB PEX12 KRAS LIPA TSHR PEX14 PFKM HESX1 TFAM UGT1A1 IL2RG ADAMTS13 EPB41 ETFB DUOXA2 KRT18 SMPD1 GALE TSHB ABCB11 PEX11B SLC4A1 SPTB BRCA1 RNASEH2B SLC2A1 CASR PRKAR1A GALT ANK1 ALDOB AKR1D1 AKR1D1 TPO DPAGT1 PROP1 ALDOA NR1H4 SP110 HSD3B7 TRHR PEX16 CFTR PEX16 NKX2-5 RHAG LBR ADAR LPL C15ORF41 RNASEH2C LHX4 POLG2 TCF4 SLCO1B3 GPI IL12A PEX6 PEX26 PTPN3 RNASEH2A PEX2 RAB27A ETFDH TPI1 EPB42 SMAD4 DGUOK HBB ATP6AP1 HBG2 PALB2 PEX3 SLCO1B3 SLC30A10 IRF5 CTRC KRT8 COX4I2 TBX19 SLC25A13 SPINK1 ANK1 SLC5A5 SAMHD1