SNPMiner Trials by Shray Alag

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Report for Mutation T93M

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans

RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations. It has been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol metabolism. Studies have already been done to determine the frequency of the SLOS-causing mutations in various geographic Caucasian populations. This study will investigate the frequency of the DHCR7 mutations in the African American population. If the frequency observed suggests that SLOS cases are not being identified in this ethnic group, the study will provide the rationale for future studies to identify these patients. The sample size will be 1,600. The study population will consist of archived biological specimens in the form of newborn screening blood spots from two newborn screening centers, one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity, including blacks of African, Caribbean, and Central American descent. Genomic DNA will be extracted from blood spots and screened for the six common SLOS mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples (the Pennsylvania samples will be totally anonymous).

NCT00017732 Smith-Lemli-Opitz Syndrome
MeSH:Cleft Palate Hypertelorism Hypospadias Genetic Diseases, X-Linked Smith-Lemli-Opitz Syndrome Syndrome
HPO:Cleft palate Hypertelorism

In these Caucasian populations, the most common mutations (IVS8-1G>C, W151X, V326L, R352W, R404C and T93M) account for 60% of SLOS mutant alleles. --- V326L --- --- R352W --- --- R404C --- --- T93M ---


HPO Nodes

HP:0000175: Cleft palate
Genes 799
GNB1 TWIST1 PROKR2 KMT2D POLR1A CTBP1 GLI3 CHD7 HAAO POMT1 TCOF1 ARID1B SOX9 GPC3 KISS1 NEB SIX3 RPL5 BRIP1 COL2A1 SIX1 IRF6 MED25 COL2A1 SPRY4 STAT3 TACR3 YAP1 BPNT2 KCNH1 FGF17 CHD7 COLEC10 HSPG2 TGIF1 GLI2 SF3B4 CC2D2A COL11A2 NFIX BGN PTCH1 ANOS1 DGCR8 MEGF10 GJA1 COL11A2 NECTIN1 TBX1 CDH1 RAI1 TFAP2A PTCH1 SMCHD1 SEMA3E PIGQ CHST14 CHRND RPGRIP1 CEP120 ESS2 IL1RN INPP5E PIEZO2 EDNRA SLX4 FGFR1 NEK1 ESCO2 GNRHR CHRNG BCOR KMT2D WDR11 BRAF RAD21 NEDD4L COL2A1 BUB3 DHODH CEP290 GREB1L RPS28 COL11A1 FANCA HOXA2 FOXC2 KLHL7 DGCR6 TBR1 DSE KRAS PEX7 PHGDH NECTIN1 FLRT3 XRCC2 KISS1R TMEM67 IL1B WNT4 OFD1 CDON SOX9 FGF8 SALL4 FGFR2 EBP MEOX1 UFD1 LETM1 FANCB TDGF1 RAD21 MYH3 SPECC1L SH2B1 CEP57 SMARCD1 FANCM CHRNG SELENOI GPC4 ZMPSTE24 PPP2R5D DCC LFNG OFD1 ALX3 IRF6 DEAF1 ALX3 COMT POMT2 HESX1 WDPCP HESX1 ACTG2 PIGP CRPPA DOK7 FGFR2 TWIST1 FANCL SIX1 SMAD4 EFTUD2 MAFB PEX5 HIRA BCR CEP41 TGFBR2 CPLX1 GNAO1 DUSP6 ALX4 TMCO1 GNAI3 NSD2 CYTB WNT3 MKS1 PEX2 PROKR2 CHD7 MAD2L2 ZMPSTE24 FGD1 RPS17 TMEM67 NODAL KCNA1 SMARCE1 DGCR2 TGFBR2 NEK1 MEOX1 RPL35A MED12 FGFR2 KMT2A COL11A1 RPS26 RPL31 CILK1 RPL15 MKS1 ARID2 TUBB CDC45 XYLT1 EIF2S3 ALX1 ERCC5 NSMF KATNIP DLX4 GRHL3 TAPT1 NBN DLL1 RPL27 FGFR2 RET SMAD3 HDAC8 PALB2 KISS1R POU1F1 PDE6D OTX2 SOX9 DHCR7 PRDM5 TUBB STXBP1 TCTN3 RECQL4 FKRP SMARCD1 HES7 TGFB3 POLA1 GRHL3 PGAP3 MSX2 PIGL CPLANE1 B3GALT6 AMER1 RPS26 B3GLCT RAI1 FZD2 FLNB POMGNT2 PROP1 GMNN RPS29 COL11A2 COLEC11 ARHGAP31 TXNL4A HS6ST1 MBTPS2 RREB1 FOXE1 KCNK9 IFT140 LBR WASHC5 SCN2A MKKS TMEM216 RPS10 TMCO1 PIEZO2 CHSY1 NID1 COG1 NFASC TBX15 RB1 SMARCB1 RECQL4 KCNJ2 BCOR ANOS1 FANCD2 LARGE1 DISP1 RIPK4 DVL3 CENPF RYR1 COL11A2 IRF6 SOX2 PIGO POMT2 SMOC1 EARS2 ACTB TP63 GP1BB ARX POMT1 REV3L DLG1 ARID1B RAD51 SLC26A2 HYAL1 PGAP2 PLCB4 ATN1 COL9A3 KIAA0586 LIG4 TP63 TWIST1 ALG3 FGFR2 MED25 PAX3 SMC3 EPG5 MAP2K2 HYLS1 MUSK TACR3 ESCO2 IGBP1 BRAF RNU4ATAC CRKL FAM20C PIGL SEC23A ECEL1 POLR1D SF3B4 PIGV PIGO TCOF1 RPS23 TBX22 PIGL RAD51C FOXC2 GLI2 DUSP6 TBX1 TBC1D24 DLL3 DPH1 OFD1 FLII SETD5 COL11A1 CHRNA1 MAP3K7 CCDC22 PNKP MYOD1 KIF7 NSMF COL2A1 FLNA WNT5A COL11A1 CTCF UBB RECQL4 DHCR24 PIGW SUMO1 GDF6 TBCE POMT2 FOXE1 ITGA8 MUSK OTX2 OFD1 TGFBR1 GNRH1 SLC25A19 RPS19 COL11A1 AHI1 ZSWIM6 COL11A1 KIF7 TP63 BUB1B RPL11 SNRPB B3GALT6 WNT4 RPS19 SCN1B KDM6A FEZF1 SUFU KLHL41 TP63 IRF6 SMS PIGY GLI3 TMEM231 MYH3 SOX3 B4GALT7 FGFR1 INPPL1 FANCL FGF20 DDX59 MAPRE2 AMMECR1 LARGE1 SIX5 FLNB ARID1B FOXH1 FGFR2 CEP55 ATR PORCN ATP6V1B2 KIF14 CHRNG FGF8 FGFRL1 TBX1 ORC6 RUNX2 FKTN SOX11 KANSL1 DDX59 ZSWIM6 PIEZO2 TELO2 WDR26 COL2A1 POLR1D GMPPB B3GALT6 SLC25A22 FGD1 MYMK CTCF GPC4 SIX3 GAS1 FAM20C C2CD3 PQBP1 SNRPB COL2A1 MIR140 MCTP2 PIGN ARVCF COL9A2 COL2A1 KIF7 TGIF1 MAPK1 MASP1 B9D1 SMCHD1 DONSON RPL11 PTPN11 IQSEC2 SLC35D1 SLC18A3 B3GLCT CCDC141 CPLANE1 CCDC141 C2CD3 POLR1C TBX2 VAX1 STAMBP FGFR2 UBE2T PTCH1 SMC1A LMNA EDN1 HNRNPK HS6ST1 HS6ST1 TMEM216 PIGV CTNND1 RBM10 SEPTIN9 RBM10 RIPK4 ERCC4 DMXL2 FLNB CDH11 GJA1 MEIS2 DHCR24 SOX10 NSD2 EYA1 PROKR2 DVL1 FGFR1 GMNN IRF6 JMJD1C RPL5 HESX1 RPS27 RPS7 FLNA SIX1 BRCA2 SMS NELFA DVL3 RXYLT1 NECTIN1 TBX1 NSUN2 GRHL3 POLR1C TRRAP RPGRIP1L MSX2 BRCA1 BUB1B FGF9 CSPP1 WDR35 ZEB2 EYA1 BMPER CDH11 DLX5 HOXD13 TCTN2 SOX4 B3GAT3 FGFR2 SON FKBP14 KDM6A NUP107 FLNA FGF17 ARID1A LHX4 TCTN3 SETD5 POLR3A CDC45 CDKL5 TTN GJB2 CDC6 PTCH2 TBX1 B4GAT1 CDH1 BUB1 YAP1 SATB2 CEP290 MYH3 DDX3X USP9X INTU RUNX2 SPECC1L SEC24C DYNC2H1 NEUROD2 BMP4 FGF8 TMEM107 FTO SPRY4 XYLT1 SLC26A2 SON SATB2 GPC3 PGAP2 MEIS2 NUP88 AMER1 RIPPLY2 FANCE SLC35D1 PHGDH RPS24 SMARCC2 PGM1 GATA1 G6PC3 KAT6B STAG2 NSMF CHST14 FGFR1 RBM8A MYMK RFWD3 GDF6 TBX22 PSAT1 CDH1 SLC26A2 TGFB2 WDR35 COL2A1 SLC10A7 CDON NIPBL GLI3 WDR11 KIFBP HSPG2 RPL26 PIEZO2 NPHP1 FLNA COL2A1 INTS1 SCARF2 PROK2 PLCB4 TCTN3 COL11A1 GDF3 FRAS1 SPEG SEMA3E IL17RD FANCF EXOC6B COL11A2 CHD7 TRIP13 MESP2 SHH HYLS1 TCTN2 SLC26A2 PHF8 RIPK4 SMC3 B9D2 ATRX ZIC2 KAT6A CASK TP63 TTC37 FANCG PPP3CA DLX4 HDAC8 NIPBL ZNF469 SELENOI ASXL1 FGFR1 SEPTIN9 KRAS LETM1 DHODH NUP107 FANCI RPGRIP1L PRRX1 GNAI3 POMGNT1 PIGN EYA1 FGFR1 ORC1 SLC39A13 LMX1B PTDSS1 SLC2A10 MAP2K1 CHN1 PROKR2 KMT2C CEP120 TBX22 SMARCA4 EDN1 RPGRIP1L TRIM8 ASXL1 TP63 TGFBR1 FOXP2 SMO TP63 RIC1 DPF2 RAPSN MAF ARHGAP29 LOXL3 NOTCH2 EFTUD2 CHST3 SMOC1 RPS15A FAM149B1 PLXND1 UBB WNT7A TBX4 EIF4A3 MID1 BMPER ALX1 TAC3 KCNN3 DHCR7 FKRP B9D2 FGFR3 SHH SLC26A2 COL4A1 RPL18 COL9A1 TP63 TMEM237 KIF7 STAC3 CYP26C1 TBX6 KIAA0753 GNB1 TSR2 PQBP1 GLI2 COL2A1 ANKRD11 ORC4 GLI2 ARCN1 FOXA2 BIN1 ORC1 PROK2 WASHC5 TRPV4 POMK ADA2 ARNT2 SMAD3 COL11A1 FANCC WHCR MAPRE2 SIK1 DAG1 TGDS OTX2 MSX2 FLNA TMEM216 FLNB RPL35 TGDS BMP4 MSX1 CC2D2A GRHL3 GATA3 IRF6 EFNB1 FKTN SEMA3A USP9X LMNA B3GALNT2 NBN TMEM231 CDT1 CHD7 SUFU PSAT1 SMAD4 STAC3 FLNA FLNB MBTPS2 KDM6A PGAP3 FLNB COL2A1 MKS1 RPL26 MSX1 FGFR1 ARID2 CD96
Protein Mutations 4
R352W R404C T93M V326L
SNP 0
HP:0000316: Hypertelorism
Genes 927
TWIST1 CTBP1 INSR NEB KIF7 BLNK LRP4 WDPCP PTEN SOX9 GPC3 KISS1 RRAS2 NEB CC2D2A FGFR2 BRIP1 KRAS ATRX MED25 COL2A1 CBL TCF12 SPRY4 TACR3 TTC37 SALL4 NSD1 FGFR3 KCNH1 FGF17 CHD7 COLEC10 COX7B CACNA1G KMT2A SHOC2 CC2D2A COL11A2 BGN PTCH1 BPTF NUP133 SEC23A RAF1 SRD5A3 FGFR1 GJA1 FAM111A VSX1 OGT ZMYND11 HRAS RNF113A SETBP1 RAI1 TFAP2A FGFR3 KCNH1 SEMA3E CHST14 CHRND RPGRIP1 CEP120 GATAD2B RMRP MRAS SLX4 FGFR1 ESCO2 NUP107 PTCH2 SUFU GNRHR CHRNG DVL1 INPPL1 WDR11 BRAF SUFU CEP290 CASK GREB1L FLCN TPM2 EXOSC9 COL11A1 ATRX AKT3 FANCA KLHL7 TBR1 DSE FBXO11 FGFR3 PHGDH CHD3 TAF1 SEC24D XRCC2 TMEM67 OFD1 DICER1 SOX9 FGFR2 SUZ12 EBP PIK3R2 ACTL6B WNT5A HSD17B4 ANKH LTBP4 UFD1 LETM1 FANCB SH3PXD2B FGFR2 MYH3 HACE1 TBCE FGFR1 SH2B1 SMARCD1 FANCM TRIO CHRNG NKX2-5 ACTA1 GPC4 RAF1 ZMPSTE24 TONSL DPF2 C12ORF57 OFD1 ALX3 ALG13 ANKH DEAF1 MAP2K2 SIN3A PDE4D ALX3 COMT POR WDPCP DOK7 FGFR2 TWIST1 FANCL ERF ERCC3 DCHS1 ITGA3 GPC4 PEX5 PDHX ATP6V0A2 DNMT3B SOS2 PPP2R5D HIRA TGFBR2 AKT1 FBN1 PTDSS1 CPLX1 TGFBR1 TMEM94 DVL1 MN1 LMBR1 DNAJC21 DUSP6 FGFR3 RPL35A IGLL1 SOS1 ATRX EZH2 NALCN TMCO1 NSD2 MKS1 CHRNA7 PEX2 CHD7 MAD2L2 ZMPSTE24 MED12 FGD1 NBAS PPP2R1A SPART SH3PXD2B PACS1 RAF1 TGFBR2 PIK3R1 KIAA1109 TGFBR2 XYLT2 MED12 FGFR2 TWIST1 PPP2R1A AGA PIGN RIT1 MKS1 TNFRSF11A ALX1 PEPD FAT4 NSMF KATNIP SOS1 PRKAR1A BCL11B TAPT1 FREM1 ALG8 ATP6V0A2 FGFR2 PMM2 RET SMAD3 POLR3A PALB2 KISS1R PDE6D RNU4ATAC DHCR7 SNAP29 MASP1 TUBB GPC4 SLC1A4 STRADA TCTN3 EIF2AK3 RECQL4 PPP1CB A2ML1 MAPK8IP3 SETBP1 TGFB3 RPS6KA3 BRCA1 PGAP3 PIGL QRICH1 CPLANE1 AMER1 KIF7 B3GLCT RAI1 FZD2 ADAMTS3 MEF2C COLEC11 TXNL4A RREB1 TWIST2 TMEM237 UBE3B LRP5 LBR WASHC5 TMEM216 FAT4 RSPRY1 BCORL1 PITX2 TMCO1 CHSY1 TRIM37 ACTB GLI3 CDH1 FBN1 ALG9 NXN ACTA2 SLC12A6 SEMA5A COG1 FBLN5 NFASC SMAD4 MAP3K7 HELLS RPS7 PRKG1 ADGRG6 RECQL4 EED PSMD12 KCNJ2 ANOS1 FANCD2 NF1 ZIC3 CTNND1 RIPK4 LRP2 GLI3 DVL3 FLNA ATP6V0A2 IL11RA BCL11B EXTL3 GLI3 FGFR3 CENPF CCBE1 FGFR2 GK SIN3A PIGO FGFR2 TBX4 GP1BB NONO COLEC11 ERF ACTG1 CASK FLNA RAD51 JAG1 RIT1 ADAT3 LIG4 ZIC2 TWIST1 FGFR2 MAP2K1 MED25 EXT2 MFAP5 EPG5 MAP2K2 FREM1 APC MUSK TPM3 KIF15 GATAD2B ESCO2 LOX BRAF CHST3 ACTG1 IRX5 COL1A2 PIGL SEC23A PIK3R2 PALB2 CDK13 CDCA7 COLEC10 TGFB3 PIGV PIGO TCOF1 ERF SNAP29 DPH1 TXNL4A SMC1A FH NFIX RLIM ADAMTS3 PIGL ACTB GBA RAD51C PACS2 KRAS SLC25A24 SPART CTNND2 BRAF CDC42 ALG1 ERCC2 NKX3-2 TBX1 TBL1XR1 TBC1D24 ALG9 POC1A DPH1 OFD1 FLII RPGRIP1L COL11A1 CHRNA1 LZTR1 MAP3K7 CCDC22 C12ORF57 MYOD1 PRPS1 FZD2 FLNA WNT5A TFAP2B PPP2CA ALDH6A1 ASXL2 ATP6V1A ACY1 CTCF DHX37 PIGW PHIP MAN1B1 PRKAR1A ADK TBCD PEX6 CDK10 ATP6V1E1 CSPP1 AHDC1 ITGA8 ATRX MUSK OFD1 TGFBR1 GNRH1 NOTCH3 BPTF RRAS ZSWIM6 KIF7 MAT2A CENPJ ANKRD11 BUB1B RAI1 SETD2 PIGG RPS19 ABCC9 TBCE LAGE3 FAT4 ANTXR1 TBL1XR1 RPS6KA3 SUFU PHACTR1 OSGEP SMS PIGY CCDC47 LRP4 TMEM231 MPLKIP MRAS B4GALT7 FGFR1 PAFAH1B1 FANCL FGF20 CD79A DDX59 FGFR2 MAP3K7 CCNK FGFR1 ARID1B NXN MYH3 FGFR2 CEP55 TWIST2 CPLX1 MED13L MRPS14 POLR1A ATP6V1B2 CHRNG FGFRL1 BMP2 PAX3 TBX1 NRAS CHST3 SALL4 WDR4 IFT43 RUNX2 ACY1 PPP3CA DDX59 TBX15 ZSWIM6 PIEZO2 SHOC2 TELO2 ROR2 HMGA2 TWIST2 DCHS1 POLR1D KIF7 TRIP12 FIBP SPECC1L KMT2A ITGA8 MMP2 MTOR FGD1 TBCD LRP2 FLI1 CTCF NF1 MAN2B1 GPC4 FRAS1 FAM20C ROR2 MEGF8 SKI MIR140 MCTP2 PITX2 PIGN ARVCF KIAA0586 RERE COG1 MASP1 B9D1 SMCHD1 CTU2 HBA1 LRPPRC PTPN11 IQSEC2 HNRNPH2 SLC18A3 MED13 FIBP B3GLCT CPLANE1 EXT2 TBX2 IL1RAPL1 STAMBP FGFR2 LEMD3 COL27A1 UBE2T HERC1 BNC2 ASXL3 MAF LMNA PEX1 HS6ST1 USB1 SOS2 SOST PIGV MYH11 PEX6 CTNND1 CCND2 RBM10 RBM10 TBX1 RIPK4 ERCC4 PSMD12 FLNB CDH11 NOTCH3 HELLS FAR1 RAF1 MOCS2 SMAD3 FOXC1 FOXP1 FGFR3 ZBTB24 SPINT2 NSD2 PROKR2 DVL1 ACOX1 PTPN11 ELN MTOR DSE FGFR1 KCNMA1 FUCA1 SKIV2L GLB1 JMJD1C ZBTB18 RPL5 ZBTB18 OSGEP FLNA MED13L CNTN1 AUTS2 BRCA2 ZBTB24 SMS NELFA DVL3 TBX1 NSUN2 POLR1C TRRAP DDR2 RYR1 BRCA1 EMC1 PYCR1 CSPP1 WDR35 DPM1 ZEB2 EPG5 EHMT1 CDH11 PTPN11 TCTN2 TARS1 B3GAT3 SIX2 FGFR2 FGFR2 SLC25A24 ALX4 FLNA FAT4 ATP6V1E1 CSNK2A1 TCTN3 BRAF POLR3A EFNB1 NSD1 PTCH2 TBX1 CCBE1 EFEMP2 MYLK SUFU TMEM67 TFAP2B UMPS AHDC1 INTU RUNX2 NGLY1 ALX4 SPECC1L SEC24C COL1A1 CCDC22 NSUN2 FGF8 PYCR2 TWIST1 TMEM107 PTCH1 FGFR2 FGFR2 DOCK6 PRMT7 RB1 TPRKB GPC3 PGAP2 BRAF NUP88 FANCE RSPRY1 SHANK3 TRIP4 PHGDH PPP1CB YWHAE CHST14 SMO RFWD3 PSAT1 CDH1 TGFB2 PARS2 SMG9 HERC1 PYCR1 IGHM SETBP1 COL2A1 TTC7A PTEN GNE GTF2H5 GLI3 HRAS CHD4 CASK LRRC8A KIFBP HSPG2 FLNA KLHL41 AUTS2 INTS1 PROK2 TCTN3 COL11A1 FRAS1 SEMA3E FANCF TGFB2 FGFR2 CHD7 FLNA TP53RK SLC26A2 SPRED1 FIG4 GTF2E2 ATRX ACOX1 ALDH18A1 TTC37 AP4S1 FANCG DLX4 KCNH1 HDAC8 ASXL1 NEB STAT3 FGFR1 PTRH2 SLC2A10 RSRC1 ANK1 KRAS LZTR1 GJA1 KIAA0753 CHD8 RUSC2 FREM2 ALDH18A1 LETM1 GJA1 FANCI FREM1 PIGN APC2 FGFR2 PIGA AIFM1 TPRKB APC CAMK2A FGF3 NRAS UBE2A ACTA1 PTDSS1 SPECC1L SLC2A10 RPS6KA3 ASXL3 MAP2K1 DNMT3B WAC CBL SLC45A1 RPGRIP1L ASXL1 MOCS1 TGFBR1 LRRC8A FGF10 PSAT1 DVL3 TRAPPC9 SHROOM4 SOST GPAA1 RAPSN MAF LBR NOTCH2 NRAS TMEM216 CHST3 PEX3 ATP6V1A GNE FAM149B1 MID1 BMPER ALX1 LRP4 FLNA TAC3 PAX3 KCNN3 RASA2 KBTBD13 DHCR7 THOC2 PDE4D B9D2 FGFR3 ALX4 POGZ ANTXR1 SLC26A2 FOXP1 KREMEN1 BRAF BMPR1A KIF7 EZH2 EHMT1 CDC42 SLC29A3 SKIV2L NF1 KIAA0753 DNMT3A KLF13 MYPN TENM3 CDCA7 THRA FOXC1 ANKRD11 GRIP1 BRPF1 KDM1A TRAPPC9 AFF4 WDR73 CD79B KAT6B ZIC1 EBF3 ABCD4 NSD1 SIM1 WASHC5 PAX3 NKX2-6 PACS1 AVP PIK3CA TP53RK PTPN11 SET HNRNPU SMAD3 MARS2 FIG4 FANCC WHCR MAPRE2 SIK3 FLNA TMEM216 ERMARD FLNB PEPD SUZ12 TGDS VAC14 TCF3 PTH1R PIK3R1 ZIC1 TCIRG1 KNL1 EFNB1 GATA6 LMNA TMEM231 FBN1 CAMTA1 ELN PSAT1 SKI SMAD4 GLE1 MAN1B1 FLNA FLNB TPM3 PGAP3 KLHL41 FLNB FOXE3 ACTB EED WDR73 ALG13 COL3A1 FLNA HBA2 CIT
Protein Mutations 4
R352W R404C T93M V326L
SNP 0