SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report

Report for Mutation R34P

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes

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)
MeSH: Elliptocytosis, Hereditary
HPO: Elliptocytosis

These mutations 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

HPO Nodes

Elliptocytosis
Genes 10
EPB41 GYPC SPTA1 ACSL4 SPTB TRNT1 SLC4A1 AMMECR1 KCNE5 GATA1