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Report for Mutation T92A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women With Thyroid Diseases

Thyroid diseases are pathologies that frequently affect pregnant women causing serious complications. This current research aims to find out whether the expression of TSHβX1 splice variant and D2 Thr92Ala polymorphism in the DIO2 gene are associated with thyroid disease in Mexican pregnant women.

NCT03612908 Pregnancy Related Hypothyroidism Hyperthyroidism
MeSH:Hypothyroidism Hyperthyroidism
HPO:Hyperthyroidism Hypothyroidism

TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women With Thyroid Diseases. --- Thr92Ala ---

TSHβX1 and D2 THR92ALA in Pregnancy Thyroid diseases are pathologies that frequently affect pregnant women causing serious complications. --- THR92ALA ---

This current research aims to find out whether the expression of TSHβX1 splice variant and D2 Thr92Ala polymorphism in the DIO2 gene are associated with thyroid disease in Mexican pregnant women. --- Thr92Ala ---

TSHβX1 splice variant expression.. Frequency of positive cases for the TSHβX1 splice variant identified by real-time polymerase change reaction.. D2 Thr92Ala polymorphism.. Allele frequency identification of the D2 Thr92Ala polymorphism by genotyping method.. Inclusion Criteria: - Pregnant women attended at the "Mónica Pretelini Sáenz" Maternal-Perinatal Hospital (HMPMPS), Health Institute of the State of Mexico (ISEM), Toluca, Mexico. --- Thr92Ala ---

TSHβX1 splice variant expression.. Frequency of positive cases for the TSHβX1 splice variant identified by real-time polymerase change reaction.. D2 Thr92Ala polymorphism.. Allele frequency identification of the D2 Thr92Ala polymorphism by genotyping method.. Inclusion Criteria: - Pregnant women attended at the "Mónica Pretelini Sáenz" Maternal-Perinatal Hospital (HMPMPS), Health Institute of the State of Mexico (ISEM), Toluca, Mexico. --- Thr92Ala --- --- Thr92Ala ---

Primary Outcomes

Description: Frequency of positive cases for the TSHβX1 splice variant identified by real-time polymerase change reaction.

Measure: TSHβX1 splice variant expression.

Time: Baseline.

Secondary Outcomes

Description: Allele frequency identification of the D2 Thr92Ala polymorphism by genotyping method.

Measure: D2 Thr92Ala polymorphism.

Time: Baseline.


HPO Nodes


HP:0000821: Hypothyroidism
Genes 330
SLC26A4 KMT2D NKX2-1 LIMK1 TRNS1 INSR FMR1 KCNAB2 KAT6B AFF4 STAT3 DMXL2 LIG4 ELN TRNF ALMS1 NIN FOXH1 CTNNB1 CDON RRM2B APOE HNF4A RAG2 RAI1 GLI3 SALL1 PROP1 PRDM16 TTC37 TSC1 DMXL2 FUT8 CHD7 SAA1 TBCK PROP1 CP TSHR FBLN5 PIK3CA BRAF LRBA ND1 ND4 SLC26A4 IGSF1 MCM8 HSD17B3 HESX1 TSHR RREB1 NKX2-5 HNF1B TSC2 SAMHD1 LHX4 KCNJ10 HPD TRIP13 C1QBP TRNQ AKT1 LHX3 HESX1 DUOX2 CACNA1C POMC SETBP1 ZIC2 RAI1 TRMT10A TF CEP57 MRAP PTCH1 SEMA3E XRCC4 FOXI1 LIG4 WDR4 RERE NKX2-1 YY1 PRKAR1A TRNW IL7R PTRH2 INSR MLXIPL SIX3 GAS1 COX3 SALL1 PAX8 TREX1 TRH KAT6B FMR1 BCOR BUB3 TSHB MARS1 ARVCF FLCN ACP5 DISP1 APC WFS1 TGIF1 NKX2-5 FANCI LIG4 POLG LIFR ADA SOX3 CDH23 IQSEC2 SKI WDR11 POLG2 GCH1 BAZ1B PDGFB TRNS2 UBR1 PIK3CA WFS1 B3GLCT RNASEH2B FGF8 TXNRD2 TRAF7 EXOSC2 DCAF17 SRD5A3 SUFU ALX4 CDON DCLRE1C DUOXA2 TRNS1 GP1BB GNE PMM2 GTF2IRD1 CLPB TRAPPC9 UFD1 ROBO1 SLC26A4 TRNH TG TDGF1 NF2 PAX8 TSHR EFEMP2 STAR TANGO2 SCN4A PROP1 FOXP3 BAP1 DACT1 CEP57 TWNK NNT RFC2 GPC1 PROP1 TERT SMO POU1F1 GATA1 ADAT3 LHX4 SGPL1 HBB GTF2I TPO TONSL STAT1 IFNG XRCC4 GNAS STEAP3 LRP4 FOXP1 GPR161 ARNT2 TSHB POU3F4 PPP1R15B TRNN PTEN MC2R FOXE1 BAP1 DEAF1 KISS1R CLIP2 LEPR NPHS1 COMT SHH ZBTB20 SLC5A5 AIRE RMRP TMEM67 SKIV2L JMJD1C GLIS3 HESX1 PLAA TRNL2 ENPP1 AKT1 KCNJ10 DUOX2 HIRA LEP ADAR NNT IFIH1 BTNL2 TRNL1 SMARCB1 GLI2 COX1 TBX1 SRY THRA SLC5A5 TRNW GLI2 ND5 PAX8 FOXA2 TBX1 ITCH RBM28 TBC1D24 CHD7 ADAMTSL1 HBB PCSK1 MEN1 BUB1B TPO FLII DNAH1 ND6 PHF21A PROKR2 IL2RG LEPR IYD ALMS1 ELN TG PLVAP DDOST POU1F1 IYD EXT2 PDE4D DNAJC19 FOXP3 ARL6IP6 SOX3 GATA6 TBL2 PAX8 NODAL SLC6A17 TANGO2 LHX4 SLC26A4 PIK3C2A RNASEH2C PIEZO1 LHX3 TSHR NKX2-1 TBX1 GABRD FOXE1 BUB1 PPP1R15B ABCC6 COX2 STUB1 DUOXA2 AIP RNASEH2A IL2RA PDE4D OTX2 NKX2-5 HLA-DRB1 SEC24C CTNS SUFU LHX4 SMARCE1 BMP4 EIF2AK3 KATNIP DLL1 ALG8 DUOX2 TRHR DNM1L GNAS SLC25A4 TRNL1 HSD17B3 STAT1 KDM6A POU1F1 RAG1 FGFR1 FOXI1 SLC16A2 OPA1 FUCA1 FDX2
Protein Mutations 2
A2215D T92A
SNP 0