SNPMiner Trials by Shray Alag


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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 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 321
TRNF SRD5A3 NODAL IYD IL2RG SLC26A4 PAX8 DNAJC19 DMXL2 PMM2 DUOX2 PRDM16 GATA1 ITCH KCNJ10 RRM2B TTC37 DCLRE1C MC2R GLI2 GNE ALX4 SKI EXT2 XRCC4 KCNAB2 GABRD INSR TRNL1 ENPP1 WFS1 BUB1 LIMK1 NKX2-1 MRAP CHD7 FOXP3 TBL2 FMR1 TSHB LHX4 SETBP1 RNASEH2B PDE4D TWNK TGIF1 SLC26A4 NKX2-5 AIP ZBTB20 POMC GLIS3 SUFU TRNN YY1 DNM1L RERE NKX2-5 TRNL2 PDE4D MARS1 SCN4A SUFU ABCC6 IL7R TBX1 GATA6 PIEZO1 ADAMTSL1 ND1 POU3F4 EXOSC2 SLC6A17 LEPR CHD7 FUCA1 WFS1 HBB APC IFIH1 COX2 HIRA RAI1 AFF4 PIK3C2A GCH1 EIF2AK3 EFEMP2 GLI2 TRAPPC9 PTEN RBM28 PAX8 FGFR1 UFD1 ARNT2 KMT2D FGF8 PAX8 SMARCB1 RNASEH2A CLIP2 LRBA TDGF1 B3GLCT FOXE1 LHX3 TG ALG8 RMRP CP TPO PPP1R15B PLVAP NKX2-1 TRNQ HSD17B3 FANCI BUB1B DACT1 JMJD1C SGPL1 PROP1 IFNG C1QBP PTRH2 ADAR GAS1 ADA SLC5A5 STAT1 SHH STAR TSHR FOXH1 KDM6A FUT8 TBC1D24 TRHR NKX2-5 LIG4 HLA-DRB1 FBLN5 TRNS1 TRH ALMS1 DNAH1 NKX2-1 TMEM67 CTNNB1 PAX8 PIK3CA RAG2 TG PCSK1 FDX2 GNAS POLG2 FOXE1 SEC24C SEMA3E TF FLII TONSL ZIC2 SLC25A4 LEPR STEAP3 BRAF TSHR SKIV2L HPD POLG LHX4 LEP PROP1 WDR4 TRNS1 IQSEC2 SAA1 SLC5A5 KAT6B DUOX2 TRIP13 UBR1 SLC26A4 LHX3 TRNL1 TSC2 TBCK NNT THRA ALMS1 FOXI1 NNT HBB COMT ACP5 ROBO1 POU1F1 POU1F1 SOX3 NPHS1 STAT1 PROKR2 DMXL2 ARVCF GTF2I GNAS DUOXA2 TRNW COX3 SOX3 LHX4 PLAA IL2RA LIFR CDON DISP1 CTNS PRKAR1A HNF4A PROP1 RNASEH2C WDR11 DDOST BTNL2 TRNH OPA1 COX1 TSHR ELN KIAA0556 TBX1 APOE LIG4 TXNRD2 TBX1 ND5 SIX3 RAG1 ND4 SLC16A2 TREX1 TSHB AIRE KCNJ10 HESX1 TRNS2 MLXIPL RAI1 ADAT3 ELN TPO CEP57 SAMHD1 TRMT10A LIG4 FMR1 FOXA2 CDH23 TANGO2 RREB1 BUB3 SRY IGSF1 FLCN PTCH1 HESX1 PDGFB BAZ1B DUOXA2 POU1F1 GPR161 IYD DEAF1 BCOR PHF21A MEN1 FOXI1 PROP1 LRP4 HSD17B3 KAT6B DUOX2 CACNA1C FOXP3 DLL1 GP1BB GLI3 OTX2 CEP57 BMP4 RFC2 TRNW SALL1 MCM8 XRCC4 DCAF17 KISS1R PPP1R15B STAT3 SALL1 FOXP1 ND6 TSHR NF2 CLPB CDON TANGO2 HESX1 LHX4 GPC1 STUB1 NIN HNF1B ARL6IP6 AKT1 GTF2IRD1 SLC26A4 TSC1
Protein Mutations 2
A2215D T92A
SNP 0