SNPMiner Trials (Home Page)
Report for Mutation R34P
Developed by Shray Alag, 2020.
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 16SPTA1 AMMECR1 GATA1 SPTA1 ACSL4 SPTA1 EPB41 KCNE5 GYPC TRNT1 AMMECR1 EPB41 AMMECR1 NHLRC2 SPTB SLC4A1