SNPMiner Trials by Shray Alag

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Report for Mutation N682S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Clinical Factors Associated With the Development of Severe Sepsis in Patients Being Treated for Acute Myeloid Leukemia

Acute leukemia is a life threatening illness that strikes people of all ages. In addition to surviving the direct effects of the disease, the treatment of leukemia generally requires chemotherapy which has its own burden. Infection is one of the most common secondary problems faced by these patients. Simple infections are common and easily treated with aggressive antibiotics. However, treated progressive infection leads to loss of vital organ function and is termed severe sepsis. Severe sepsis is associated with increased risk of death and the need for specialized care in the intensive care unit. Besides the appropriate use of antibiotics, little is known about what clinical and patient factors are associated with the development of severe sepsis. Recent evidence has suggested that certain practices like frequent transfusion of blood products and control of glucose levels effects outcome in critically ill patients. In addition, there have been advances in our knowledge of certain genes that may predispose people to severe infections. It is possible that these factors are important in people who are not yet critically ill, but are at risk for the development of severe sepsis. This observational study will look at genetic, clinical and therapeutic factors that are associated with the development of severe sepsis. This will help doctors understand what treatments may be helpful in preventing this serious complication.

NCT00806325 Sepsis Acute Myeloid Leukemia
MeSH:Sepsis Toxemia Leukemia Leukemia, Myeloid Leukemia, Myeloid, Acute
HPO:Acute megakaryocytic leukemia Acute myeloid leukemia Leukemia Myeloid leukemia Sepsis

- H2c: In human sepsis, patients with the Asn682Ser polymorphism in the TSP-1 gene will be associated with a higher incidence of lung-injury. --- Asn682Ser ---

- H2d In human sepsis, patients with the Asn682Ser polymorphism in the TSP-1 gene will be associated with a more severe course of lung-injury. --- Asn682Ser ---

Primary Outcomes

Measure: determine the true relationship of hyperglycemia to the development of severe sepsis after chemotherapy for AML

Time: end of study

HPO Nodes

HP:0001909: Leukemia
Genes 190
TREM2 CBL TERT CEP57 PICALM ATRX TERT FANCD2 RPS15A RPS24 FANCE PIK3R1 GATA1 STS ELANE WIPF1 JAK2 GATA1 SRP54 LIG4 POT1 GATA2 PTPN11 MLH1 XRCC4 SRP54 TET2 TET2 LIG4 EP300 NPM1 RARA SH3GL1 PDGFRA RPL5 ERBB3 RUNX1 KRAS PIGL GATA2 NUTM1 ETV6 PIGL THPO DYNC2LI1 RPS26 GFI1 CBL WAS RPL18 SH2B3 ABL1 LPP ATM SRSF2 TP53 NRAS DNMT3A DNAJC21 RPS27 RPS7 MPL RPL26 DNMT3A RPS29 CALR ASXL1 CEBPA ELANE TSR2 RUNX1 DKC1 APC ADAR NUP214 GLI1 HAX1 IFIH1 SCN9A MYD88 EVC RUNX1 SAMHD1 NSUN2 CREBBP TRIP13 SRP54 SBDS SH2B3 RUNX1 DNAJC21 TP53 RPS10 MPL BCR GATA2 CALR BUB1B FLT3 CALR NRAS SETBP1 MSH2 SH2B3 SAMD9L FANCC BCR TCIRG1 BLM ADA2 PIK3CA SRSF2 FANCG GATA2 MYD88 KIF11 TET2 FLT3 JAK2 KIT RPS17 NBN RB1 NUMA1 BRD4 TREX1 THPO SMPD1 RPL35 BUB3 RNASEH2C PDGFRB SF3B1 RPS28 MSH6 DDX41 PMS2 RPL35A BAX BUB1 TERC TET2 DNAJC21 RPL11 CHIC2 BLM FANCA KIT RPL31 MLLT10 RPL15 RNASEH2A KRAS TAL2 EVC2 RPS14 SCN10A RPS19 MPL ASXL1 SAMD9L RNASEH2B CBL JAK2 NF1 ABL1 CBFB ARHGAP26 BUB1B NBN SCN11A TET2 MPL JAK2 F13A1 RPL27 BCR BRCA2 SBDS F13B GNB1 TAL1 PIGA NUP214 TYROBP EFL1 GFI1 TET2 JAK2 KRAS
Protein Mutations 56
C282Y C481S D816V D835Y E255K E255V F317C F317L F317S F317V F31I F359C F359V G250E G71R H369P H63D L248R L248V L265P L858R N291S N682S P13K P140K P1446A P4503A Q12H Q252H R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W S1612C S9333A T315A T315I T351I T790M V158M V299L V57I V600E V617F V66M Y253H
SNP 17
rs10509681 rs11572080 rs12459419 rs172378 rs2032582 rs230561 rs25531 rs3816527 rs396991 rs429358 rs4880 rs4958351 rs6190 rs628031 rs7412 rs776746 rs904627
HP:0004808: Acute myeloid leukemia
Genes 48
CHIC2 LPP TCIRG1 SRSF2 KIT MLLT10 KRAS DNMT3A PICALM DNAJC21 TERT TET2 FLT3 RPS14 ELANE ASXL1 JAK2 KIT CEBPA SRP54 MPL RUNX1 GATA2 DKC1 SRP54 NPM1 CBFB RUNX1 SH3GL1 JAK2 SRP54 SF3B1 SBDS DDX41 ERBB3 DNAJC21 BRCA2 SBDS ETV6 PIGA NUP214 THPO EFL1 GFI1 GFI1 TET2 TET2 DNAJC21
Protein Mutations 22
D835Y I332E N682S R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W S1612C S239D T315I T351I V617F
SNP 4
rs12459419 rs1695 rs230561 rs3816527
HP:0100806: Sepsis
Genes 78
PLEC CYBB CYBC1 VPS33A IL7R CYBA LIG4 LMOD1 IL2RG ALOX12B IL7R G6PC3 RET BLNK WIPF1 SULT2B1 IL2RG NIPAL4 CD79A ECE1 FOXP3 EDNRB NCF2 APC CTCF SEMA3C SERAC1 IKZF1 MNX1 CXCR4 IGHM MYH11 ABCA12 NFKB2 RAG1 TCF3 TFRC ELANE SAMD9 PIK3R1 MYLK RAG2 CYP4F22 NCF4 WAS COG4 GALT ADA AK2 RMRP ACTG2 CTNNB1 NRTN NCF1 FERMT3 HYOU1 AK2 BTK ATP7A CD40LG SEMA3D ALOXE3 TGM1 MMUT ITGB4 LRRC8A PGM3 DCLRE1C HLA-B EDN3 CTLA4 LIPN GDNF CD79B CHD7 IGLL1 RAG1 SDR9C7
Protein Mutations 2
G20210A N682S
SNP 8
rs150018775 rs2234237 rs2234237r25r rs2234246 rs3210140 rs4883263 rs4883264 rs61729512
HP:0012324: Myeloid leukemia
Genes 20
SAMD9L NF1 SRSF2 ARHGAP26 TERT NRAS F13A1 TET2 DNMT3A KRAS ASXL1 GATA2 KIT F13B PTPN11 TERC SAMD9L CBL SETBP1 CBL
Protein Mutations 33
D835Y E255K F317L F359C F359V G250E H369P I332E L248V N682S Q252H R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W S1612C S239D T315A T315I T351I V299L V617F Y253H
SNP 9
rs10509681 rs11572080 rs12459419 rs1695 rs2032582 rs230561 rs3816527 rs628031 rs776746