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


Elliptocytosis
Genes 16
SPTA1 AMMECR1 GATA1 SPTA1 ACSL4 SPTA1 EPB41 KCNE5 GYPC TRNT1 AMMECR1 EPB41 AMMECR1 NHLRC2 SPTB SLC4A1