SNPMiner Trials by Shray Alag

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Report for Mutation R34P

Developed by Shray Alag, 2020.
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

HP:0004445: Elliptocytosis
Genes 17
EPB41 NHLRC2 TRNT1 SPTA1 GATA1 GYPC ACSL4 KCNE5 SPTA1 SPTB AMMECR1 EPB41 SPTB SLC4A1 AMMECR1 SPTA1 AMMECR1
Protein Mutations 1
R34P
SNP 0