SNPMiner Trials: Mutation Report
Report for Mutation R34P
Developed by Shray Alag, 2019.
SNP Clinical Trial Gene
There is one clinical trial.
The purpose of this study is to find a gene or its mutation (an altered gene) that puts
individuals at risk for developing HE or HPP.
NCT00723567 Hereditary Elliptocytosis (HE) Hereditary Pyropoikilocytosis (HPP)
were also present in his brother and daughter who have HE, while another son, who had
Arg34Pro, but not LELY has repeatedly confirmed normal morphology. --- Arg34Pro ---
Primary Outcomes Measure
: Identify a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP Time
: After sample is obtained
Genes 10EPB41 GYPC SPTA1 ACSL4 SPTB TRNT1 SLC4A1 AMMECR1 KCNE5 GATA1