SNPMiner Trials by Shray Alag

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Report for Mutation R463C

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol

Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)

NCT01331642 Splenomegaly Hepatomegaly
MeSH:Hepatomegaly Gaucher Disease Splenomegaly
HPO:Hepatomegaly Splenomegaly

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S --- --- L444P --- --- R463C ---

Primary Outcomes

Description: Next-Generation Sequencing (NGS) of the GBA gene will be performed. The mutation will be confirmed by Sanger sequencing.

Measure: Sequencing of the Gaucher disease related gene

Time: 4 weeks

Secondary Outcomes

Description: The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Measure: The Gaucher disease specific biomarker candidates finding

Time: 24 months

HPO Nodes

HP:0002240: Hepatomegaly
Genes 673
PEX5 PDGFRA IL2RG KLF1 SRP54 IL2RG PEX13 MYORG SLC20A2 GPC4 CLCA4 PCCB ABCB4 PEX1 CD40LG CPT2 TCF4 PEX6 XPR1 ACOX1 B2M TNFRSF1B SKIV2L YARS2 TTC37 DCLRE1C HYMAI SCARB2 CD70 BSCL2 LYZ NEU1 SOX10 PSAP IDUA ABCC8 HSD3B7 EFL1 WT1 FASLG ERCC6 DPM1 ATP8B1 CHD7 TINF2 PEX12 BSCL2 UCP2 PRKCD LACC1 ABCB11 RNU4ATAC PLEKHM1 COG7 DAXX PEX10 MST1 HADHA GBA PSMB8 GPIHBP1 AGA HADHA GLIS3 GPC4 PEX19 DNASE1L3 TRMU COX10 NAGA TRNK DOLK PEX2 MRPL3 LCAT PEX11B DHFR TMEM70 DNAJC21 CTSK KLF1 HBB NDUFS1 HFE FASTKD2 ALG9 MVK RFT1 LZTR1 G6PC3 ANK1 SOS1 CDKN1C EIF2AK3 PYGL FASLG NHP2 BSCL2 RIT1 DCDC2 NCF2 ACADM STEAP3 FBP1 DNAJC21 GNE TNFRSF1B ND3 DCLRE1C HMGCL RMRP DIS3L2 FOS PC SLC29A3 RBCK1 ACOX1 CASR SLC30A10 COX6B1 SMPD1 RAF1 CBS RAG2 DGUOK RPGRIP1L COX8A ND3 TRIM37 CFTR INPP5E RMND1 NDUFS7 LIG4 CA2 SCYL1 NDUFS2 HLA-DRB1 FAS H19 NCF1 ARSB POLD1 SLC25A20 EWSR1 ALMS1 GALE PEX26 MMAA KRT17 F5 ABCA1 KRT6B PCK1 PEX19 DHDDS ALG13 ADA2 SERPINA1 NPHP3 MOGS GBA FBP1 MPC1 KRT16 TET2 LBR SLCO2A1 LRP5 MET KCNH1 IDUA TRMU PIGS CAV1 IFT122 TNFSF11 GLB1 PEPD ASAH1 ATP6V1B2 ACAT1 ND1 TCIRG1 HSD17B4 GNPTAB PHKG2 IDUA IL1RN NRAS BMP2 ND6 SNX10 AKR1D1 GBA AMACR ETFA ND2 MAN2B1 DGUOK CD19 GBA PEX14 PNPLA2 MVK DLD PEX16 SBDS TUFM VPS13A SEC63 IFT140 GBA AMACR GBA PTPN11 HMGCL NPC1 CTNS TSFM PEX5 HBB TRNS1 SLC25A13 PCCA LIPA PSMB4 HBA2 ABCD3 LIPE GATA2 ATP8B1 JAK2 MPI SMPD1 ICOS DCTN4 SUMF1 DKC1 FUCA1 PEX3 LIG4 AGGF1 PEX3 PEX14 TRNE ACADVL RAG1 PTEN GPC3 PEX10 APOC2 SLC2A1 ASL CAV1 INPPL1 HYOU1 TRIM37 HGSNAT HPGD GBA MMUT PEX26 TGFB1 RAB27A RAG2 TGFB1 MMUT KCNN4 CYBB HMOX1 H19-ICR NDUFA11 RPGRIP1L CLDN1 MPL UQCRB DYNC2LI1 NDUFAF2 HJV MRPS7 PEX2 NDUFB9 PEPD KRAS G6PC MCM4 MMUT COG4 ABCC2 HLA-DRB1 PPARG FOXRED1 HBG2 NDUFS7 TRNV PCCA HNF1A ABHD5 SBDS PIGA WRAP53 COX14 APOA1 EFL1 SLC17A5 COX4I2 GNMT GPD1 TREX1 ATP6AP1 HNF4A DDRGK1 NDUFAF1 SLC25A13 PEX12 TERC COG5 CTLA4 PHKA2 TRNN PHKG2 KRAS CYBC1 LMNA USP18 IDS IL7R SP110 PEX1 CIDEC IL2RB MEFV FERMT3 ATP7B PET100 GPC1 CPT1A NLRC4 HMGCS2 PEX3 FGA JAM3 GNPTAB MIF TRNW TERT CLCN7 NDUFA6 PNPLA2 PRF1 NAGA SC5D PIGM PMM2 GALT HLA-DRB1 ITK SMPD1 NDUFAF4 LIPA NGLY1 ND2 IDUA LPIN2 PEX6 MFN2 POLG SUMF1 IFT172 ZAP70 NDUFAF1 MYBPC3 SLC30A10 PEX26 PEX10 ACADVL CPT2 PKHD1 AGPAT2 HBB CC2D2A ETFDH NRAS GLRX5 CD96 COA8 OSTM1 GAA NLRP3 PEX2 CPOX PSAP ND4 PEX6 TACO1 SLC37A4 POLG2 SPTB ABCB11 TMEM67 ALDH7A1 LBR HBA1 ATPAF2 SRP54 AKR1D1 SLC39A4 ICOS PLPBP SPTA1 NDUFS4 MARS1 CPT2 IL7R FAH NDUFS3 RASA2 COX20 AUH TRAPPC11 HBA1 TKT PEX14 ATP7B FUCA1 OCLN RHBDF2 DCDC2 CLCN7 JAK2 DPM2 GNE GUCY2D NCF2 SLC25A19 PIK3C2A SF3B1 KCNH1 NEK8 NDUFS6 ACADL NDUFAF3 RRAS NDUFV1 ERCC8 SEC63 PEX5 ANTXR1 CAVIN1 IGF2 PSMB9 ALG8 TMEM126B GFM1 FAS PDGFB CLCN7 CD28 NOTCH2 PCCB CTLA4 GNS HAMP C1QBP PTRH2 ADA HBG2 NCF4 TIMMDC1 PARN TTC37 EIF2AK3 TMEM165 RHAG ALDOB NDUFAF5 PEX12 STX11 CD27 TRAPPC11 SGSH CALR SLC25A19 RFT1 NLRP3 CD28 MECP2 USB1 AGL TMEM67 HBG1 IDUA GALNS CPT2 SLC25A20 ABHD5 ADA HSD3B7 LARS1 RAG2 WDR35 RMRP KCNQ1 GCDH FDX2 STX1A NDUFS8 ND1 CCDC115 NGLY1 LMNA LIPA TRNL1 IL2RG NCF1 SLC25A15 CC2D2A TNFRSF13C SLC4A1 ADAMTSL2 CASP10 ATRX PRKCSH SKIV2L SOS2 KRT6A RRAS2 KCNJ11 CLDN1 RTEL1 DLD CD55 PIEZO1 SLC13A5 SLC7A7 CYTB PEX6 NPC2 BSCL2 NDUFB10 SAA1 AP3D1 ITCH PDGFRB PEX13 RAG1 PEX11B RAG1 CIDEC ALMS1 COA8 XIAP GBA HBB RASGRP1 CASP10 TCIRG1 NHLRC2 CASR ALG1 NDUFS4 ND5 NDUFB11 TNFRSF11A PHKB PSMB8 AKT2 SH2D1A EPB42 SLC22A5 PEX1 C15ORF41 IL2RA SLC37A4 AGA LMNA MYD88 GUSB BTNL2 TNFRSF13B LTBP3 CYBA ASAH1 NPM1 COG6 PHKA2 KCNN3 SLC7A7 CYBA HFE GLB1 NLRP1 CBL VPS45 APOE SCO1 GPR35 CR2 ATP6 HNF4A PRKCD NAGLU BTNL2 FAM111B LMNA EARS2 APOE LYST TET2 NUBPL CCDC47 ALDOB KCNQ1OT1 HBA2 CAVIN1 LYST SNX10 PPARG RNASEH2A CTLA4 FAH SLC25A15 PEX1 NDUFV2 FBN1 SLC22A5 CYP7B1 GPC3 EXTL3 XYLT1 PEX16 CYP7B1 CPT1A BOLA3 XIAP CTNNB1 CYBB NAGS CTC1 NOP10 DDRGK1 TRNW JAK2 MMAB PEX16 XRCC4 MPV17 SLC25A1 MRAS NDUFB3 ACADM FAS PTPRC LBR VPS33A IL6 GBA TALDO1 BTD PLAGL1 TET2 ASS1 NDUFA1 ALG2 MPL PEX12 AP3B1 IFIH1 ETFB AGPAT2 ERBB3 A2ML1
Protein Mutations 4
L444P N370S R463C R496H
SNP 0
HP:0001744: Splenomegaly
Genes 481
MEFV PDGFRA KLF1 IL2RG GPC4 ABCB4 CD40LG TCF4 B2M TNFRSF1B TTC37 DCLRE1C SCARB2 BSCL2 LYZ NEU1 SOX10 PSAP IDUA HSD3B7 IL12A FASLG ERCC6 NOTCH1 DPM1 ATP8B1 CHD7 TINF2 FOXP3 PRKCD CR2 LACC1 ABCB11 RNU4ATAC PLEKHM1 CASK COG7 GBA MST1 PKLR GBA PSMB8 GPIHBP1 IL12A-AS1 AGA ERAP1 GLIS3 TNFSF12 GPC4 LAT DNASE1L3 DOLK LCAT TBX1 PIEZO1 CTSK KLF1 HBB AKT1 HFE G6PC3 ANK1 IRF8 UROS EPB42 PIK3CD FASLG UFD1 NHP2 BSCL2 CD81 TNFSF12 RHAG HBB DCDC2 NCF2 STEAP3 IGH TNFRSF1B DCLRE1C RMRP FOS RAG1 SLC29A3 NFKB2 CASR SMPD1 JMJD1C SPTB RAG2 FAT4 DGUOK RPGRIP1L MEFV ABL1 ICOS INPP5E NFKB1 CA2 SCYL1 FAS PTEN NCF1 ARSB MKS1 ALMS1 GALE MPL SLC4A1 F5 ABCA1 SEC24C ADA2 EPB41 APOA1 GBA ADAMTS3 TET2 LBR UMPS SLCO2A1 PIK3CA KCNH1 SH2B3 IDUA CAV1 TNFSF11 HAVCR2 PEPD ASAH1 ATP6V1B2 TCIRG1 SPTA1 STAT4 LPL GNPTAB PHKG2 IDUA IL1RN BMP2 GPI SNX10 AKR1D1 GBA AKT1 CFAP410 MPL COMT MAN2B1 DGUOK CD19 MVK GBA ALAS2 PIEZO1 MVK JAK2 VPS13A NLRP12 PTEN GBA GBA NPC1 CTNS SLC4A1 SH2B3 HBB TNFRSF1A GATA1 SH2B3 LIPA PSMB4 HBA2 ABCD3 ALDOA GATA2 JAK2 SMPD1 ICOS CALR SUMF1 DKC1 FUCA1 LIG4 RAG1 UROS KCNN4 PTEN BCL6 GPC3 APOC2 SLC2A1 FMO3 CAV1 INPPL1 HGSNAT HPGD GBA TGFB1 RAB27A JAK2 KCNN4 CYBB RREB1 RPGRIP1L CLDN1 MPL DYNC2LI1 HJV CCR1 PEX2 PEPD KRAS RUNX1 MCM4 MMUT COG4 HLA-DRB1 PPARG CD19 HBG2 HLA-DRB1 WRAP53 OTC APOA1 GP1BB SLC17A5 COX4I2 GPD1 TREX1 ATP6AP1 DDRGK1 TERC CTLA4 PHKG2 CYBC1 LMNA IDS IL7R IL2RB MEFV FERMT3 GPC1 CCND1 NLRC4 THPO FGA GNPTAB MIF TERT CLCN7 PRF1 PIGM HLA-DRB1 ITK SMPD1 PRKCD LIPA IDUA CALR ATRX LPIN2 KLRC4 GATA1 TPP2 SUMF1 SAMD9L IFT172 ZAP70 SLC30A10 EPB41 ABCG8 GUSB PKHD1 AGPAT2 HBB CC2D2A NRAS GLRX5 SH2B3 OSTM1 GAA NLRP3 CPOX PSAP CALR SPTB TMEM67 HBA1 JAK2 AKR1D1 SLC39A4 ICOS SPTA1 BACH2 IL7R FAH HBA1 DHCR24 ATP7B OCLN MPL DCDC2 CLCN7 JAK2 TPI1 MPIG6B HIRA GNE NCF2 BCL2 PIK3C2A CCBE1 SF3B1 KCNH1 CASP8 NOD2 ERCC8 BCR USB1 HBB CAVIN1 PSMB9 CARD11 MVK GYPC FAS IGH HLA-B CLCN7 CD28 NOTCH2 CTLA4 GNS HAMP CDAN1 BRAF ADA NCF4 PARN RHAG TNFRSF13C C4A TNFRSF13B STX11 CD27 UBAC2 SGSH CALR NLRP3 CD28 PNP USB1 SEC23B TMEM67 HBG1 IDUA IL23R ADA HSD3B7 RAG2 NLRC4 WDR35 PEX7 TET2 CCDC115 NGLY1 NEU1 LIPA NBEAL2 NCF1 CC2D2A TNFRSF13C SLC4A1 CASP10 SKIV2L RTEL1 ABCA1 PIEZO1 SLC7A7 TLR4 GFI1B NPC2 AP3D1 ITCH ANK1 IL10 ATM RAG1 XIAP GBA RASGRP1 CASP10 TCIRG1 CASR ALG1 TNFRSF11A TP53 PSMB8 ARVCF SH2D1A EPB42 THPO C15ORF41 IL2RA LMNA MYD88 GUSB APOE TNFRSF13B CYBA ASAH1 NPM1 GATA1 COG6 PHKA2 KCNN3 CYBA HFE GLB1 NLRP1 MS4A1 VPS45 GPR35 TBX1 CR2 PRKCD NAGLU BTNL2 BPGM APOE LYST TET2 TNFRSF4 CCDC47 JAK2 SLC4A1 HBA2 CAVIN1 LYST SNX10 PPARG RNASEH2A CTLA4 FAH PKLR FAS CYP7B1 GPC3 CYP7B1 XIAP CYBB SPTB PIK3R1 NBEAL2 CTC1 CCND1 NOP10 JAK2 DDRGK1 IFNGR1 JAK2 FAS ANK1 PTPRC VPS33A IL6 GBA TALDO1 BTD TET2 HK1 GP1BA MPL G6PD AP3B1 IFIH1 AGPAT2 TBXAS1 ERBB3 PHYH
Protein Mutations 5
L444P N370S R463C R496H V617F
SNP 0