SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation A2215D

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Congenital Hypothyroidism Due to Thyroglobulin Mutations in an Inbred Brazilian Family: A Novel Compound Heterozygous Constellation and Intronic Mutation Related to Fetal Goiter.

The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.

NCT00493103
Conditions
  1. Congenital Hypothyroidism
MeSH:Congenital Hypothyroidism Hypothyroidism
HPO:Congenital hypothyroidism Hypothyroidism

Congenital Hypothyroidism Congenital Hypothyroidism Hypothyroidism Congenital goitrous hypothyroid is commonly linked to thyroglobulin (TG) gene mutations.We aim to identify mutations in the TG gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.Four related patients with congenital goiter hypothyroidism from an inbred family were studied.Recombinant human TSH stimulation test, DNA sequencing and protein computer analysis were performed.We identified a novel compound heterozygous constellation (IVS30+1G>T/A2215D) in two siblings. --- A2215D ---

The recent described mutation A2215D is located in the ACHE-like domain, which functions as a dimerization domain, facilitating efficient intracellular transport of the protein. --- A2215D ---

Protein computer analysis suggested that the A2215D mutation causes TG structural alterations.A novel compound heterozygous constellation (IVS30+1G>T/A2215D) and the previously described mutation (IVS30+1G>T) that cause severe congenital hypothyroidism due to defective TG synthesis have been identified. --- A2215D ---

Protein computer analysis suggested that the A2215D mutation causes TG structural alterations.A novel compound heterozygous constellation (IVS30+1G>T/A2215D) and the previously described mutation (IVS30+1G>T) that cause severe congenital hypothyroidism due to defective TG synthesis have been identified. --- A2215D --- --- A2215D ---



HPO Nodes


HP:0000821: Hypothyroidism
Genes 412
ZIC2 GLIS3 FOXH1 TRNL1 NODAL HESX1 ALX4 LIMK1 IRS4 CTNNB1 HBB SIX3 TSHR LIG4 GP1BB MLXIPL CDON SALL1 PAX8 PRKAR1A SEC24C TF POMC BMP4 APOE CACNA1C ZBTB20 WFS1 THRA NKX2-5 GPC1 FGF8 TRIP13 DISP1 GAS1 IYD XRCC4 FOXH1 ELN KMT2D MDM4 SCN4A JMJD1C UFD1 TSHR BAP1 COX2 TSC1 DLL1 TXNRD2 SIX3 EIF2AK3 NKX2-5 GTF2I NSD1 MCM8 SLC26A4 TG FOXH1 CDON AIP TBX1 LHX3 SLC26A4 LIFR GAS1 ACP5 TRNH MRAP SEMA3E SLC5A5 APC SPOP SIX3 NODAL GATA1 LHX4 HPD SHH DISP1 POU1F1 NKX2-1 GLI2 ALMS1 FANCI ITCH RERE FMR1 DISP1 TWNK DLL1 SAA1 FOXP3 FGF8 TDGF1 UBR1 ABCC6 SVBP LHX3 TRNS2 GLI2 FGF8 TRNS1 POU1F1 YY1 RAG2 POU3F4 IFIH1 DUOXA2 IFNG FGFR1 PLAGL1 STAR ZFP57 GNE OPA1 DMXL2 NODAL PHF21A HBB ANAPC1 GNAS GATA6 ND4 PAX8 ND5 SUFU TBCK SLC6A17 CDON IL7R STAG2 ARL6IP6 BAP1 SIX3 COX1 RAI1 SMARCB1 WDR11 DDOST CHD7 RAG1 RNASEH2C PLAA ALMS1 ZIC2 PROP1 TTC37 FGF8 SHH POU1F1 SKIV2L IGSF1 TRNW STAG2 LEPR LIG4 NODAL BUB1B SLC26A4 PTCH1 ADAMTSL1 ZIC2 PTEN HYMAI TRHR ZIC2 GAS1 GAS1 SLC5A5 TRAF7 ROBO1 RNASEH2B TRNF TDGF1 BTNL2 DUOXA2 FOXP3 HNF1B ABCC8 DYRK1A BCOR TGIF1 FLCN CDON DNM1L MARS1 KCNJ10 NKX2-1 TSHR NNT KATNIP KISS1R SAMHD1 DISP1 PTCH1 GLI2 ADA LRP4 TSHB EXOSC2 GLI2 SLC25A4 C1QBP CLPB GLI3 KCNJ10 BUB3 SMC1A GNAS DCLRE1C MC2R SUFU NPHS1 SOX3 FOXA2 SMO KAT6B TONSL STAT1 JAK1 WDR4 PROP1 PPP1R15B CHD7 SETD2 RREB1 PROP1 CEP57 MEN1 PDGFB ARVCF GCH1 CLIP2 TBX1 LRBA NIN SIM1 PTRH2 TRMT10A BAZ1B FUCA1 BRAF ADAR LHX4 SOX3 TRNQ RRM2B HSD17B3 AFF4 TRH SMARCE1 RFC2 SIX3 TDGF1 PDE4D TANGO2 HESX1 PTRH2 FGFR1 TG CDON LEP KDM6A MAGEL2 TBC1D24 INSR TRNL2 RAI1 ZIC2 DCAF17 HESX1 GLI2 FOXE1 COX3 FOXH1 EXT2 STEAP3 ND1 GPR161 PIK3C2A FGF8 HBB DMXL2 GABRD DNAJC19 POLG2 MTTP TRAPPC9 KCNAB2 TGIF1 AIRE TPO PLVAP WFS1 PTCH1 PTCH1 GRM7 CDH23 TDGF1 LEPR IL2RA IL2RG STAT3 SHH TERT PIK3CA GLI2 SKI GAS1 NF2 PROP1 HNF4A LHX4 FUT8 RNASEH2A COMT TBX1 TGIF1 RBM28 ENPP1 GTF2IRD1 SHH PAX8 CDON AKT1 NNT PCSK1 IYD DEAF1 PTCH1 ADAT3 FOXH1 TRNS1 PROKR2 FLII TGIF1 SALL1 SLC26A4 APC2 XRCC4 CTNS PIEZO1 PMM2 STUB1 LHX4 FDX2 ACP5 TDGF1 KCNJ11 TRNN SRD5A3 TRNW DLL1 TRNL1 SHH TPO AKT1 SGPL1 TGIF1 FOXI1 TREX1 ITCH SLC16A2 DUOX2 FOXE1 FOXP1 ND6 FGFR1 HSD17B3 TMEM67 BUB1 INSR POLG ALG8 FMR1 ELN TSC2 SETBP1 RMRP SRY PAX8 DUOX2 TANGO2 NKX2-1 NKX2-5 NODAL TSHB PIK3CA TBL2 B3GLCT DLL1 ARNT2 TSHR DUOX2 KAT6B HIRA IQSEC2 LIG4 OTX2 FOXI1 DLL1 PRDM16 CEP57 DNAH1 PDE4D DACT1 HLA-DRB1 TBL1X PPP1R15B STAT1 DISP1
Protein Mutations 2
A2215D T92A
SNP 0