SNPMiner Trials by Shray Alag

SNPMiner SNPMiner Trials (Home Page)

Report for Mutation R112H

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation An Internationa,Multicenter, Epidemiological Study

Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients.

NCT01429597 Cerebrovascular Accident Stroke, Acute Cerebral Stroke
MeSH:Stroke Fabry Disease Cardiomyopathies
HPO:Angiokeratoma corporis diffusum Cardiomyopathy Stroke

Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H ---

Primary Outcomes

Measure: analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients

Time: 24 month

HPO Nodes

HP:0001297: Stroke
Genes 168
TRNF MAT2A GATA6 SON ACVRL1 MYH11 GLA CST3 COL3A1 PMM2 TGFB2 CYTB ND5 APP TRNV TRNS2 FOXE3 CALR ACVRL1 ACTB TPP2 GLA F2 GUCY1A1 MYBPC3 PIGA NR2F2 MYLK ELN APP TNXB TRNL1 GDF2 TRNL1 HBB WFS1 COX3 SH2B3 LIMK1 TBL2 PNP ENG TRNS1 TP53 SNAP29 PCNT JAK2 ZMPSTE24 GTF2I TRNF TRNW COX3 ZAP70 CPS1 CYP11B1 SMAD4 SMARCAL1 MYD88 JAG1 TREX1 KCNQ1 PRKAG2 MYH11 TRNH TGFB3 COX1 ANGPTL6 CCM2 OTC GNAQ ELN TRNW ND1 CYTB NOS3 ND5 MPL SMAD4 PRKCH ND4 DPM3 TREX1 COX2 LOX TGFBR2 RFT1 TRNQ PIK3C2A TRNS2 MECP2 NR3C1 MLXIPL APP ELN GUCY1A1 ADA2 ACTA2 CBS SLC2A10 APP COX1 CLIP2 ENG SLC19A2 HTRA1 FLNA PRKG1 HSD11B2 KRAS CST3 SCN5A GYS1 TGFBR1 BAZ1B COL4A1 APP ABCC6 LMNA FBN1 ND1 TRNQ F5 PRNP ACTG1 NPPA VHL MMUT HTRA1 STIM1 NAGS ACAD9 SMAD4 JAK2 COL3A1 TGFBR3 RFC2 SMAD3 SLC19A2 JAK2 GATA4 ND6 TTR ALOX5AP TRNS1 MPL ND6 NOTCH3 COX2 TANGO2 COL4A1 MYH11 TET2 DYRK1B AGXT TET2 ASS1 MFAP5 ADA2 XYLT1 TRNK XYLT2 MPL ENG GTF2IRD1 THPO MTHFR TRNC CRELD1
Protein Mutations 10
A143T C807T G20210A I843S L33P M235T N215S R112H V34L V66M
SNP 5
rs10033464 rs1906591 rs2106261 rs333 rs6265
HP:0001638: Cardiomyopathy
Genes 716
NDUFS7 PEX5 PDGFRA LMNA TCAP TPM1 EPG5 SGCB DOLK GPC4 PCCB XK MLX CPT2 GPR101 VCL TAZ MAP2K2 YARS2 TWNK RRM2B SDHA MC2R TMPO BRAF PRKAG2 BSCL2 AHCY TNNC1 NEU1 XRCC4 IDUA VPS33A GABRD TRNL1 CAP2 MYO18B IDH2 NDUFA10 GYG1 VCL LAMC2 NDUFV2 SLC25A4 TNNI3K RNU4ATAC CHKB DES MYH7 JUP BAG3 PEX10 MYBPC3 HADHA TRNL1 CRYAB SLC2A10 LMNA RAF1 TMEM43 MYOT HADHA WFS1 MAP2K1 TACO1 HADHA MYH7 PPA2 ACTN2 HSD17B10 GPC4 PEX19 NDUFB11 MYLK2 COX10 SARDH NAGA TRNK MRPL3 ATP6 TMEM70 GMPPB ND1 DES MAP2K2 KLF1 POMT2 NDUFS1 CAV3 KRAS DPM3 HFE COX2 FASTKD2 PTPN11 ITPA ANK1 CDKN1C FKTN ACTA1 TK2 RYR1 BSCL2 RNASEH2A ATP5F1D SHOC2 SDHA NDUFS3 FHL1 ANO5 HNRNPA2B1 PARS2 PPCS NDUFA11 ND3 XRCC2 FOS TPM3 RBCK1 TNNT2 ELAC2 TRNQ ACTA1 COX6B1 NDUFB11 COL7A1 HRAS PALB2 NDUFB8 COX7B ABCC9 COX8A ND3 TGFB3 ACADS TMEM126B DSP LDB3 FANCE DES RMND1 HADHA PSEN2 NDUFS2 TTR NDUFS2 TRNS1 H19 ARSB LAMP2 SLC25A20 PTPN11 RAD51 ALMS1 RAF1 NDUFS2 TNNT2 FKTN TAZ POLG2 COQ4 NRAS RAF1 HNRNPA1 RAB3GAP2 SGCB ACTC1 SYNE1 MYH7 NF1 HACD1 MYL3 AGK POLG COX7B PEX7 FANCD2 SYNE2 SLC25A4 KCNJ8 GLA ANKRD11 FHL1 SYNE2 DSP TERT USP9X TPM2 LAMA3 NDUFA2 SDHA SDHB MRPS22 ND1 NAXD DMD FXN SPEG GNPTAB SHOC2 IDUA FKRP NDUFA12 NDUFAF4 BMP2 ND6 NNT COG7 ECHS1 GATAD1 FHL2 NDUFV2 LDB3 TOP3A ND2 SLC25A4 POMT1 ERCC4 HADHB PNPLA2 CSRP3 LAMA2 DLD MTFMT SUFU SCO2 VPS13A NEBL POMK FLNC RNF113A HMGCL MYH6 AGK TSFM MAP2K1 TNNI3 BRCA1 TRNS1 GATA4 MRPL44 FIG4 LAMA4 RFWD3 PCCA NDUFS2 PRKAG2 COX1 DTNA HPS1 DMD TNNT2 BRAF LMNA COL7A1 FXN LMNA NBAS TXNRD2 ND5 NDUFAF6 PEX14 ACADVL EMD ND4 WARS2 ANKS6 TMEM126A TREX1 GPC3 FKRP PKP2 ATAD3A NUP107 MEN1 LMNA CAV1 HADHB HGSNAT MMUT ELN PEX26 TGFB1 PMM2 FLNC H19-ICR NDUFA11 TWNK LDB3 PLN SLC19A3 SCN5A RAF1 FOXRED1 NEXN NDUFAF2 FANCC TPI1 HJV PET100 MAD2L2 SLC25A3 KBTBD13 ERCC2 NDUFB9 MMUT DOLK PPARG FOXRED1 NDUFS7 TRNV PLN PCCA TAPT1 COX14 SCN5A CSRP3 ACAD9 VCP KRAS RFC2 ERBB3 GTPBP3 ERCC3 GSN NDUFAF1 DSC2 LAMP2 TRNN NDUFV1 LMNA TXNRD2 PTPN11 MYL2 ND6 TRNT PET100 CPT1A FKTN ABCC9 XYLT1 HLA-B XYLT2 PEX3 COX15 DSG2 NDUFA10 DSG2 DPM3 SDHD TRNW TRNF JUP TPM2 OPA1 MICOS13 DNAJC19 NDUFA6 NDUFS1 PNPLA2 NAGA PHYH DNAJC19 PMM2 LMNA NDUFAF4 ACTA1 LAMA4 PRDM16 ND2 EYA4 MLYCD PPCS PEX6 PIGT CRYAB GNE NDUFAF1 MYBPC3 ALG1 SLC30A10 SKI NDUFAF3 TAZ TTN KCNAB2 ACADVL INSR SLC25A3 CPT2 BRAF AGPAT2 TNNI3 ENPP1 WFS1 CISD2 MYH7 COA8 SELENON POMT1 LIMK1 MRAP PRKAG2 SCO2 TBL2 PEX2 RIT1 MYSM1 UBE2T GJA5 USP8 ND4 LAMB3 TRNT1 TACO1 DMD RNASEH2B ACTN2 SPTB NDUFA9 TWNK CSRP3 FLAD1 AARS2 ATPAF2 EPG5 MTO1 SPTA1 FBXL4 RERE NDUFS4 SGCD TNNC1 LDB3 MAP3K20 JUP ABCC6 CPT2 GATA5 FAH NDUFS3 ACAD9 COX20 VCL ACAD8 GSN NDUFAF2 FANCL SDHA FKTN TWNK RRM2B GMPPB IFIH1 SOS1 SLC40A1 MYH7 FHL1 FOXRED1 PEX7 COX15 SURF1 TTN SELENON TRIP4 GMPPB DCAF8 KCNH1 NEK8 NDUFS6 TTN ACADL HADH NDUFAF3 POLG CLIP2 NDUFV1 BRIP1 SLC19A2 DSG2 TNNT2 KRAS BAG3 JUP GYS1 TNNI3 POMGNT1 IGF2 FANCF ANKRD1 COA6 ADCY5 TMEM126B LIAS EYA4 PCCB ACTC1 GNS ACTA1 HAMP C1QBP DSP NDUFB11 ATAD3A ADCY5 BRAF ADAR GTF2E2 TIMMDC1 STAR FKRP CRYAB LMNA TPM2 CRYAB MYOZ2 NDUFAF5 SGSH ACAD8 TRNK RNASEH1 AGL TTR IDUA NDUFS8 CPT2 SLC25A20 NEXN ABHD5 RMRP COA5 KCNQ1 PEX7 ITGA7 COQ2 NDUFS8 ND1 FANCA NDUFA13 TRNL1 POMT1 NDUFS4 MYH7 SLC4A1 TMEM43 GTF2H5 FANCM TARS1 MYH6 CLN3 POLG DLD AHCY TPM3 GBE1 SDHAF1 PSEN1 MYL2 CDH23 BAG3 RAF1 NDUFB10 NDUFAF5 SGCA KAT6B MYH6 POLG UBR1 PEX13 MPLKIP TNNI3 PSEN1 MYBPC3 MGME1 NEB PEX11B SDHA TPM1 RBM20 LTBP4 ALMS1 COA8 HBB BBS2 POMT2 AIP PDHA1 MIB1 DSP ALG1 BRCA2 CENPE NDUFS4 ND5 HAMP NDUFB11 MYPN TTPA POMT1 RAD51C MGME1 GTF2I EPB42 TRNW PEX1 PPP1CB COX3 MYPN RNU4ATAC BCS1L FTO RNASEH2C MYPN LMNA TFR2 GUSB TMEM70 NDUFA4 SLX4 TRNH ATP6V1A D2HGDH NEXN GATAD1 PSEN2 NUP107 HFE GLB1 SCO1 NDUFA2 ATP6 HCCS TNNC1 NEB NAGLU AIP TRNS2 HRAS PIGT SGCD FANCG FANCI TTN SAMHD1 NUBPL PGM1 RBM20 ABCC9 MMP1 TANGO2 MRPS14 KCNQ1OT1 CAVIN1 PLN PPARG FIG4 LMNA MIPEP ACTC1 BAZ1B FHL1 DES MYH7 IL12B LMNA PRDM16 NDUFV2 ABCC6 SLC22A5 RYR2 ATP5F1E FANCB NDUFS8 MAP2K1 SDHAF1 GPC3 HADH HJV NPPA TPM3 KLHL41 MYPN AIP BOLA3 TRNE GTPBP3 DMD HCCS TCAP LIPT1 VAC14 SLC25A4 LIMS2 PEX16 DSP NDUFB3 JPH2 VPS33A SURF1 CLPB TNNI3 MYOT TAF1A PRDM16 TPM1 MYH6 POLG NDUFA1 GTF2IRD1 PEX12 SDHD DMD AGPAT2 TRNK SMC1A PHYH
Protein Mutations 9
A143T F64L I665V N215S R112H S77Y T60A V122I V30M
SNP 18
rs1042522 rs1042522s rs1056892 rs10836235 rs10865801 rs1128503 rs1149222 rs13058338 rs1465952 rs1786378374 rs1883112 rs2229774 rs2279744 rs35599367 rs3761624 rs45511401 rs4673 rs7853758
HP:0001071: Angiokeratoma corporis diffusum
Genes 4
NAGA NAGA AGA GLB1
Protein Mutations 4
A143T D313Y N215S R112H
SNP 0