SNPMiner Trials by Shray Alag


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Report for Mutation R352W

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 ---



HPO Nodes


HP:0000175: Cleft palate
Genes 790
WHCR EPG5 TBX22 SOX11 B9D1 TCTN3 MAP2K2 CHD7 TACR3 TSR2 EDN1 CEP290 SETD5 FGF17 HESX1 CCDC141 DAG1 SOX10 TCTN3 PIEZO2 DSE IRF6 ZMPSTE24 KCNJ2 ASXL1 MAFB KIF7 MAP2K1 CHD7 PTCH2 SOX9 DPH1 RUNX2 COL11A1 CHST14 SMS TGFB3 TBX1 FLNB ZSWIM6 NFIX UBB HS6ST1 NFASC RPS10 RAP1B EYA1 PTPN11 MIR140 MID1 GLI2 POLR1C WDR35 GNB1 PAX3 PPP3CA FOXE1 PROK2 TGDS XRCC2 SH2B1 CHRNA1 TUBB STAMBP TCOF1 FLNA RPL35 PTDSS1 RPGRIP1 HSPG2 COL2A1 BIN1 CEP41 TBR1 PIGN DGCR2 SLC26A2 RPL26 SOX4 DDX3X PIEZO2 PSAT1 SMC3 KANSL1 NEK1 FGFR1 PEX7 MAPRE2 STAT3 CENPF SEC24C GLI3 B3GLCT POMT1 PIGN ZIC2 TRRAP KCNH1 USP9X PSAT1 ZNF469 FAM20C TACR3 RPS19 RPL35A B9D2 MUSK POMGNT1 MKKS MED25 CHST3 IL1RN ERCC4 B3GALT6 CDC6 IFT140 CCDC22 DISP1 EYA1 PROKR2 FAM20C BRCA1 PIEZO2 STXBP1 RFWD3 LARGE1 ASXL1 DVL3 TBX1 BPNT2 FGFR1 FGFR3 GPC3 PIGP COL11A2 MUSK RPGRIP1L SALL4 FGF17 TELO2 HS6ST1 DCC FGF20 CASK COL9A2 FOXA2 EFNB1 DGCR6 RREB1 MEGF10 HYLS1 LOXL3 LFNG WDPCP FANCC DEAF1 BCOR SLC35D1 IRF6 EDNRA PEX2 POMT2 HDAC8 GMPPB RPS7 COL2A1 DLL1 SOX9 GP1BB GLI3 COL11A1 ARHGAP31 PIEZO2 MAPK1 SNRPB NSUN2 POMT2 PROK2 NBN PLXND1 TMEM231 DVL1 RECQL4 GNRHR PIGL CDON RPL27 GNRH1 FGFR2 ANKRD11 HOXD13 DGCR8 KCNA1 TP63 TBX15 TMEM107 NID1 COL2A1 B3GAT3 DHODH CEP290 RYR1 CHD7 RPL11 LETM1 SMC3 MYH3 TBX1 GLI2 PLCB4 DHODH MESP2 FKTN TP63 VAX1 CTCF RBM10 KDM6A KIFBP RPS29 UBE2T COL11A2 RPS23 SMAD3 PIGO SCN2A WNT4 LMNA CHRNG RPL18 RPGRIP1L SLC39A13 UBB RPS26 GREB1L CC2D2A RIPK4 COL2A1 FLNB EIF2S3 WNT7A FANCL DHCR24 RBM10 PLCB4 CHD7 PIGW PGAP2 NSD2 CHRNG SOX9 ARCN1 FGFR1 CHSY1 COL2A1 RAP1A WDR11 PEX5 COLEC10 SPRY4 SETD5 RPL5 KIF7 SIK1 DLX4 FGFR1 ANOS1 MEOX1 NOTCH2 DLL3 ARID2 COL4A1 GNAI3 BRAF GAS1 MBTPS2 GLI2 RPS17 SHH GNAI3 TXNL4A FOXH1 CEP120 TBC1D24 PROKR2 DHCR7 SLC25A19 CSPP1 YAP1 KISS1R FOXC2 WDR35 FLNA COG1 ATRX FANCA FLNA BCOR CDC45 PGAP3 TGFB2 NSD2 INTU RUNX2 RB1 SON FANCM RET ATN1 TMEM231 PIGV CPLANE1 SLC10A7 PROP1 RPS15A TGIF1 ANOS1 FLNB HESX1 TRIP13 SMCHD1 EIF4A3 USP9X HAAO FLRT3 OTX2 CILK1 CPLANE1 BRCA2 NECTIN1 SEMA3A GJA1 INPPL1 RPL11 SON BGN FTO ARID1B SLX4 COL2A1 KMT2D KMT2C RAD21 KCNN3 B4GALT7 KIAA0556 PPP2R5D TCOF1 RNU4ATAC RPS19 SLC26A2 TBX1 GDF6 TRPV4 TFAP2A FLNB MSX2 SMAD3 RAPSN PGAP2 WDR26 FANCI TCTN3 IL17RD KAT6A B9D2 PTCH1 HESX1 COL9A3 COL11A1 GPC3 XYLT1 ORC1 MAPRE2 COL2A1 OTX2 POMT2 HYLS1 COL2A1 GATA1 SOX3 ARX CRKL CHN1 SLC26A2 MYOD1 LHX4 PTCH1 SEMA3E SPRY4 COL11A1 PTCH1 ARID1B TBX6 COL2A1 SPEG TP63 SCARF2 IGBP1 ESCO2 GPC4 AMMECR1 SIX1 OFD1 ARHGAP29 NECTIN1 CCDC141 BCR IRF6 ALX3 FLNB FEZF1 DDX59 MAP3K7 COL9A1 CTBP1 BUB1 SIX3 LARGE1 ESS2 HOXA2 ORC1 MSX1 IRF6 SLC2A10 FLNA TGFBR2 EXOC6B RIPK4 NELFA MYH3 GPC4 SUFU MKS1 AMER1 GRHL3 HDAC8 DOK7 POLA1 HYAL1 RPL15 POMK KISS1R NEB TAC3 KMT2A SMARCA4 NEUROD2 TWIST1 KRAS RECQL4 KRAS G6PC3 FAM149B1 TP63 DVL3 COL11A1 GNAO1 EBP UFD1 KIAA0586 FGF8 COL11A2 ARID2 TDGF1 FLNB B3GLCT SATB2 FGFRL1 SNRPB FGFR2 DHCR24 YAP1 TTN PGAP3 JMJD1C MEIS2 FGFR2 TRIM8 PALB2 PHGDH C2CD3 CTCF PQBP1 SLC18A3 STAC3 STAG2 WNT5A KDM6A TGFBR1 FANCE GNB1 TP63 SHH MKS1 RAD51 FZD2 FLNA FGD1 TWIST1 HES7 FOXE1 PIGL COL11A2 ALX1 PORCN SEMA3E PIGQ PROKR2 SMC1A TGFBR2 ARID1A SMCHD1 FGF8 IRF6 FANCD2 SMOC1 GRHL3 FKBP14 SMARCB1 DYNC2H1 NEK1 RPL5 DDX59 IL1B SPECC1L MKS1 ATP6V1B2 DLG1 C2CD3 FANCL FRAS1 COL2A1 PHGDH POMT1 FGFR2 GMNN COMT MYMK SLC26A2 GJA1 CDH1 ACTB RPL26 WASHC5 BMPER WNT4 SELENOI KISS1 EDN1 RPS24 TBCE ALX3 PIGY TMCO1 NUP88 TP63 AHI1 RXYLT1 HS6ST1 ACTG2 FGD1 SIX3 COL2A1 ZMPSTE24 FKRP CDH1 NUP107 RPS27 RPS26 RAI1 FGFR2 BUB3 ECEL1 STAC3 SMARCE1 RPS28 LMX1B NSMF MASP1 TCTN2 MAD2L2 TMEM237 KAT6B ITGA8 ERCC5 SMARCC2 WASHC5 TAPT1 CEP57 BMP4 TMEM216 TMEM67 RIPK4 SIX5 SLC25A22 SF3B4 GRHL3 NEDD4L NODAL TBX22 CEP55 KDM6A SUFU POLR1A FOXC2 NECTIN1 POLR1D CHD7 BRAF SF3B4 ARID1B B4GAT1 FGFR2 SMOC1 SIX1 COLEC11 TGIF1 CHRND XYLT1 GATA3 PROKR2 CDC45 TWIST1 TBX4 MEIS2 COL11A1 TMEM67 OFD1 FGFR2 FKTN SOX2 ESCO2 DONSON ALG3 PHF8 GDF6 TGFBR1 OFD1 TMCO1 CRPPA CTNND1 ARNT2 HIRA DUSP6 RAI1 REV3L LIG4 GDF3 FGF8 KIF7 RAD21 DPF2 KMT2D NPHP1 RIPPLY2 EFTUD2 POLR1D CDH1 BRIP1 BUB1B PIGO NBN NIPBL FANCF TP63 SIX1 DHCR7 BMPER BUB1B FGFR1 HSPG2 TGDS KCNK9 AMER1 TTC37 EYA1 DUSP6 COL11A1 FGFR1 CYP26C1 INPP5E POLR1C KLHL41 RPL31 TP63 OFD1 TMEM216 CC2D2A RPGRIP1L SEPTIN9 SUMO1 TUBB ORC6 GLI2 KIAA0753 TBX2 PRRX1 FLII NSMF SLC26A2 NSMF MED25 CHST14 TCTN2 PRDM5 SCN1B FGFR1 TBX1 CYTB RBM8A SLC35D1 ZSWIM6 SMAD4 IQSEC2 LBR COL11A1 MCTP2 DLX4 FKRP MEOX1 SEPTIN9 PIGV GMNN KIF14 ATR ADA2 LETM1 ORC4 FOXP2 RAD51C ARVCF MYMK PIGL POLR3A EFTUD2 CDKL5 CEP120 PDE6D SEC23A NUP107 CDH11 WNT3 ZEB2 B3GALT6 FANCG EARS2 PGM1 GJB2 KLHL7 RECQL4 COL11A2 FGFR2 IRF6 ALX1 B3GALT6 BMP4 CDH11 POU1F1 KIF7 CHRNG FANCB CPLX1 POMGNT2 TMEM216 SATB2 SPECC1L PQBP1 OTX2 FGF9 MSX2 MBTPS2 GRHL3 HNRNPK PNKP B3GALNT2 MSX1 FLNA CDON NIPBL SMAD4 WDR11 CD96 TBX22 CDT1 SMS MYH3 GLI3 MED12 LMNA
Protein Mutations 4
R352W R404C T93M V326L
SNP 0
HP:0000316: Hypertelorism
Genes 929
SMC1A PAFAH1B1 WHCR TWIST2 EPG5 CSPP1 PYCR2 TGFB2 ADAMTS3 PEX1 B9D1 SLC12A6 NALCN TCTN3 CENPJ NUP133 INSR MAP2K2 SKIV2L NKX3-2 TTC37 SPART BRAF PAX3 NKX2-6 TRNL1 PSMD12 SMO ZIC1 PACS1 TCTN3 PIEZO2 DSE SETBP1 ZMPSTE24 CCND2 PPP2CA KCNJ2 ASXL1 ADGRG6 GBA KIF7 MAP2K1 AGA PTCH2 RPL35A DPH1 BMPR1A RUNX2 COL11A1 CHST14 SMS TGFB3 TBX1 FLNB ND1 MAP2K2 DOCK6 ZSWIM6 MED13L NFIX MAPK8IP3 PRMT7 SETD2 PIGG HS6ST1 NFASC COX2 LOX ALG9 KCNH1 PTPN11 BRCA1 MIR140 SOS1 GPAA1 MID1 TRAPPC9 ACTA1 SEMA5A FGFR1 SHOC2 ACTG1 SMG9 GNE TGDS XRCC2 CHD8 SH2B1 CHRNA1 MARS2 ACOX1 SPART TUBB STAMBP BCL11B ANTXR1 FLNA CCNK PTDSS1 RPGRIP1 UBE2A SRD5A3 MAF RPGRIP1L NSD1 TBR1 COLEC11 TBL1XR1 PIGN CCBE1 HMGA2 AVP SLC26A2 FGF10 TRNS1 PTEN PTPN11 PIK3R2 PSAT1 MAPRE2 STAT3 FBN1 CENPF NRAS SEC24C ALG13 ZBTB18 B3GLCT NF1 NF1 FREM1 HERC1 FLNA FGFR3 ADAMTS3 PIGN UMPS TRRAP THOC2 KCNH1 PSAT1 DNMT3B TPM2 LRPPRC FAM20C TACR3 EZH2 B9D2 PEPD MUSK ZIC2 PHACTR1 FLNA FGFR2 MED25 CHST3 APC LTBP4 FAR1 ERCC4 FGFR1 LRP2 KIF7 POC1A PTPN11 CCDC22 SLC1A4 PPP1CB MAP2K1 ALDH6A1 CDK10 BRCA1 ZBTB24 DVL3 POR NBAS FIG4 RFWD3 TGFB3 GLI3 ASXL1 DVL3 PPP2R1A TBX1 WNT5A RPS7 FGFR3 ND5 SMAD4 FBLN5 GPC3 PSMD12 FGFR2 COL11A2 MEGF8 MUSK ADAT3 FGF17 TELO2 NONO FGF20 KMT2A SLC2A10 PMM2 EXT2 EFNB1 RREB1 GPC4 PSAT1 MTOR COL1A2 RAF1 WDPCP COX7B FANCC CDCA7 YWHAE DEAF1 EBF3 PEX2 KBTBD13 NSUN2 HDAC8 PEPD LEMD3 RAI1 CACNA1G SOX9 PIGA GP1BB GLI3 SH3PXD2B KCNH1 KRAS GATAD2B CIT NSUN2 PROK2 AUTS2 KRAS AHDC1 TMEM231 FAT4 PALB2 FIBP DVL1 DVL1 RECQL4 GNRHR PIGL GNRH1 FGFR2 ANKRD11 SOST FRAS1 TRNF TMEM107 SALL4 ALX4 OSGEP B3GAT3 PTEN CEP290 CHD7 FLI1 BNC2 LETM1 RB1 ZBTB24 TBX1 PPP3CA PDE4D PIK3R2 IFT43 IL1RAPL1 TENM3 PPP2R1A CTCF RBM10 KIFBP SHROOM4 ATRX TBX4 FGFR2 UBE2T GK PEX6 TMEM67 CD79B SMAD3 PIGO LMNA CHRNG EPG5 NF1 FREM1 ERF GREB1L CC2D2A RIPK4 FLNB TRAPPC9 BPTF FANCL RBM10 ATRX CHD7 PIGW PTCH2 ACY1 FGFR3 NSD2 CHRNG SOX9 FZD2 TBCD CHSY1 COL2A1 RRAS SEC24D KLF13 AKT3 PEX5 COLEC10 USB1 KIF7 PYCR1 TCF3 KIF7 CHST3 ASXL3 NOTCH2 GRIP1 FAM111A AP4S1 LMBR1 CBL PDHX BRAF GTF2E2 EIF2AK3 CASK TXNL4A CEP120 TBC1D24 SLC25A24 MAP3K7 DHCR7 COL27A1 MED13L CSPP1 SH3PXD2B KISS1R UBE3B WDR35 ACTA1 RPS6KA3 FLNA FLNA COG1 ATRX CCDC22 FANCA FLNA ROR2 PGAP3 TONSL TGFB2 NSD2 INTU RUNX2 GTF2H5 MYH11 FANCM TARS1 RET TMEM231 PIGV CPLANE1 HELLS RAF1 PEX6 EFEMP2 ANOS1 TBL1XR1 MPLKIP MYLK GLI3 PIGN LZTR1 NXN ACY1 ITGA8 CPLANE1 ALG1 BRCA2 ATP6V1E1 MYPN TPRKB LRP2 PRKAR1A TRNW PPP1CB TMEM237 BGN APC2 KMT2A PACS2 SLX4 TRNH ATP6V1A KCNN3 VSX1 B4GALT7 KIAA0556 COLEC10 TCOF1 ZIC1 RPS19 FGFR3 SLC26A2 CASK TBX1 TFAP2A NEB FLNB HELLS SMAD3 RAPSN PGAP2 FANCI PYCR1 TCTN3 ACTA2 CAMK2A CCDC47 LRP4 MRPS14 MAN1B1 FIG4 DSE PIK3CA LRRC8A GATAD2B FBN1 COL11A1 LRP4 ABCC9 DPH1 ERF GPC3 SOST TPM3 SNAP29 OSGEP ATP6V0A2 DICER1 CTU2 HRAS COL2A1 VAC14 SUZ12 SUFU RUSC2 MED12 CASK FGFR2 ALG9 NUP107 ALX4 BPTF IGLL1 TMEM94 FREM2 MYOD1 SEMA3E CPLX1 SPRY4 RERE FOXC1 PTCH1 ARID1B EED DDR2 LAGE3 ESCO2 POLR3A ATRX GPC4 NXN NOTCH3 OFD1 TRIP12 ACOX1 GPC4 ACTB ALX3 DDX59 SKI MAP3K7 LRP5 CTBP1 RYR1 DPM1 DPF2 DVL1 FGFR2 SLC2A10 FLNA RAF1 TGFBR2 CDH1 NELFA GLI3 MYH3 GPC4 GATA6 ANKH TWIST1 AMER1 DOK7 C12ORF57 ATP6V0A2 BRAF HBA1 NEB SETBP1 TAC3 KIAA0753 TWIST1 AKT1 KRAS RECQL4 TGFBR2 DCHS1 DNMT3A LZTR1 FAM149B1 DVL3 FLNA EBP MOCS1 UFD1 RIT1 PHIP FLNB MYH3 B3GLCT FGFRL1 FGFR2 PARS2 KDM1A TMEM216 CDCA7 CSNK2A1 FLNA CAMTA1 PGAP3 RSPRY1 FBN1 TRNQ SIN3A JMJD1C RAF1 RSPRY1 FGFR2 PALB2 FAT4 CHRNA7 TWIST2 MAN1B1 PHGDH CTCF TBCE SLC18A3 WNT5A TGFBR1 FANCE NSD1 ALX4 MKS1 RAD51 FZD2 FLNA FGD1 TWIST1 MAP3K7 PIGL ALX1 SEMA3E ZIC3 TGFBR2 EED SMCHD1 ASXL2 TP53RK FANCD2 TFAP2B ACTB RPL5 DDX59 ANKRD11 GJA1 COL1A1 CDC42 ZMYND11 FGFR2 HBA2 MRAS SPECC1L FGF3 WDR73 MKS1 KLHL41 ATP6V1B2 HSD17B4 FANCL FRAS1 SHOC2 COG1 NRAS PHGDH THRA WDR73 FGFR2 SKI FIBP EXT2 RPS6KA3 SUFU FGFR2 COMT GJA1 PRPS1 WASHC5 SUFU ANKH KISS1 FGFR2 RNF113A FAT4 CDC42 ALX3 MMP2 PIGY INPPL1 PAX3 OGT KIF15 COX1 TMCO1 TPM3 BRAF NUP88 NRAS MEF2C PITX2 FUCA1 PEX3 KIAA1109 MOCS2 FGD1 ND4 ZMPSTE24 CDH1 KIF7 RAI1 CDK13 FGFR2 TRIM37 RSRC1 WAC PPP2R5D CHD3 FGFR2 RPS6KA3 PRKAR1A DNAJC21 ZBTB18 PTCH1 SPECC1L SPRED1 MASP1 MAD2L2 EMC1 ERCC2 TBCE ITGA8 SEC23A WASHC5 TAPT1 NKX2-5 TMEM216 SLC25A24 SMAD3 ERCC3 SPINT2 TMEM67 STRADA BCL11B FGFR1 PTPN11 CTNND1 ND6 MASP1 FOXC1 RIPK4 TWIST1 SPECC1L CTNND2 CEP55 SUFU ABCD4 NGLY1 FOXE3 HACE1 EFNB1 FGFR3 POLR1D ELN MTOR SIN3A CHD7 BRAF PITX2 LRRC8A FGFR2 RIT1 COLEC11 FH SHANK3 CHRND WDR4 LRP4 GJA1 PROKR2 ALDH18A1 TWIST1 TAF1 AFF4 KIAA0586 OFD1 FGFR2 KNL1 RASA2 ESCO2 ERF TGFBR1 OFD1 ACTB TMCO1 APC CTNND1 HNRNPH2 SOS1 HIRA GNE RAI1 EXOSC9 FOXP1 KREMEN1 LIG4 CCBE1 TRIP4 FGF8 PAX3 FGFR1 CD79A SIM1 BRIP1 BUB1B CHD4 PIGO ALDH18A1 ANTXR1 FANCF BLNK ALG8 AHDC1 XYLT2 BRAF DHCR7 BMPER ASXL3 SLC45A1 AUTS2 FGFR1 HSPG2 PTRH2 ELN BRPF1 EHMT1 RLIM TTC37 DUSP6 FGFR3 FGFR1 IL11RA POLR1C SIK3 OFD1 DNMT3B ITGA3 ALG13 RPGRIP1L FAT4 PTDSS1 EHMT1 HNRNPU MFAP5 KIAA0753 TBX2 FLII NSMF CC2D2A MAT2A SKIV2L SOS2 PIK3R1 RRAS2 MED25 COL3A1 CHST14 TCTN2 FGFR1 PIK3R1 ZSWIM6 SMAD4 IQSEC2 ATP6V1A LBR COL11A1 CNTN1 MCTP2 ATRX ANK1 DLX4 IRX5 FGFR3 PIGV FBXO11 BCORL1 SET SALL4 EXTL3 CHST3 LETM1 SNAP29 RAD51C EZH2 ARVCF NOTCH3 ATP6V0A2 ROR2 COX3 PIGL TFAP2B HERC1 RNU4ATAC POLR3A SOS2 SIX2 TCF12 TBX1 PDE6D JAG1 TBX15 GLE1 SEC23A CDH11 GLB1 NSD1 CBL ZEB2 TRNS2 HRAS FANCG PDE4D NEB KLHL7 RMRP FGFR2 WDPCP ADK PRKG1 POGZ PACS1 FLCN TXNL4A ALX1 TGFBR1 CDH11 TPRKB CHRNG SLC29A3 SETBP1 FANCB CPLX1 ACTG1 KLHL41 TMEM216 DCHS1 AIFM1 TTC7A PTH1R C12ORF57 ERMARD FGFR2 ACTL6B KAT6B POLR1A IGHM MRAS TWIST2 FOXP1 TP53RK FLNA TBCD LBR FREM1 BMP2 WDR11 QRICH1 SMS ATP6V1E1 MED12 LMNA A2ML1
Protein Mutations 4
R352W R404C T93M V326L
SNP 0