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 187
BLM KRAS PDGFRA RB1 SH2B3 SRP54 NPM1 HAX1 TET2 FLT3 FANCC SMPD1 GFI1 RPS15A GATA1 KIT RPL11 RUNX1 RPS19 RPL35A CALR ATRX MSH2 NF1 SAMD9L TRIP13 EVC2 PIGA GATA2 TSR2 SAMD9L SPINK1 DDX41 FANCD2 ATM NRAS MLLT10 ADA2 BUB1 SH2B3 RPS29 MPL CEBPA RUNX1 ASXL1 TP53 CALR SETBP1 RNASEH2B NUP214 JAK2 SBDS WAS THPO TREM2 STS RPS24 TERT KIT JAK2 BLM BCR SRP54 SRP54 MLH1 RNASEH2C RPL18 MYD88 ELANE SH2B3 CBL GLI1 TYROBP FANCE DKC1 GATA2 DNAJC21 RPL15 KIF11 CALR TP53 SRSF2 MPL GATA2 IFIH1 SCN11A RPS10 TREX1 DNMT3A CTRC RPS27 LIG4 RPS26 FANCG SF3B1 ELANE SAMHD1 TET2 NBN NUP214 ETV6 PICALM RNASEH2A DNAJC21 JAK2 BUB3 TCIRG1 BCR BUB1B RPS28 FANCA RPL5 DYNC2LI1 NBN DNMT3A DNAJC21 MSH6 RARA PIK3CA TERC MYD88 BUB1B ARHGAP26 KRAS RPS7 RUNX1 RPL35 LPP BRCA2 CBL BRD4 GNB1 PIK3R1 CBFB ADAR F13A1 SBDS TAL1 EFL1 RPS17 JAK2 FLT3 RPS14 BCR CEP57 POT1 KRAS ABL1 APC ABL1 PMS2 TET2 WIPF1 JAK2 GATA1 NSUN2 LIG4 SH3GL1 XRCC4 F13B RPL26 RPL31 MPL PTPN11 PDGFRB NUTM1 TAL2 PIGL PIGL PRSS1 TET2 RPL27 EP300 NRAS CHIC2 TET2 GATA2 NUMA1 TERT GFI1 MPL THPO CREBBP SCN10A SCN9A ERBB3 EVC
Protein Mutations 51
C282Y C481S D816V D835Y E255K E255V F317C F317L F317S F317V F31I F359C F359V G250E G71R H369P H63D L248R L248V N682S P140K P1446A P4503A Q12H Q252H R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W S1612C S9333A T315A T315I T351I V158M V299L V57I V600E V617F V66M Y253H
SNP 15
rs10509681 rs11572080 rs12459419 rs172378 rs2032582 rs230561 rs25531 rs3816527 rs396991 rs4880 rs4958351 rs6190 rs628031 rs776746 rs904627
HP:0004808: Acute myeloid leukemia
Genes 48
CBFB KRAS ASXL1 SBDS EFL1 SF3B1 RPS14 ELANE SRP54 NPM1 NUP214 JAK2 SBDS TET2 TET2 FLT3 TET2 ETV6 PICALM GFI1 TERT DNAJC21 KIT JAK2 SH3GL1 KIT TCIRG1 RUNX1 SRP54 SRP54 DNMT3A DNAJC21 PIGA GATA2 DDX41 DKC1 DNAJC21 CHIC2 GFI1 SRSF2 MPL MLLT10 THPO LPP BRCA2 CEBPA RUNX1 ERBB3
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 76
EDN3 G6PC3 IL2RG CXCR4 PIK3R1 HYOU1 ATP7A IL2RG SEMA3C CD79A MMUT MYH11 TGM1 AK2 CYBB CYP4F22 ALOXE3 COG4 GDNF DCLRE1C BLNK CTNNB1 ELANE RET RMRP TCF3 RAG1 PGM3 ITGB4 MYLK ALOX12B VPS33A EDNRB TFRC LRRC8A CTCF ABCA12 ACTG2 SERAC1 CHD7 FOXP3 ADA NCF4 SDR9C7 PLEC ECE1 HLA-B LIPN WAS SEMA3D NFKB2 LMOD1 AK2 WIPF1 NRTN SULT2B1 CD79B IGHM IL7R GALT NCF1 CYBC1 SAMD9 CYBA IGLL1 IKZF1 IL7R RAG2 FERMT3 APC MNX1 BTK LIG4 RAG1 NIPAL4 NCF2
Protein Mutations 2
G20210A N682S
SNP 8
rs150018775 rs2234237 rs2234237r25r rs2234246 rs3210140 rs4883263 rs4883264 rs61729512
HP:0012324: Myeloid leukemia
Genes 20
NF1 F13A1 PTPN11 SAMD9L ASXL1 CBL TERC SAMD9L SETBP1 KRAS NRAS TET2 GATA2 TERT ARHGAP26 KIT SRSF2 F13B CBL DNMT3A
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