SNPMiner Trials by Shray Alag

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Report for Mutation G1170S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Molecular Genetic Study of Avascular Necrosis of the Femoral Head-Revealing ANFH Pathogenesis Mechanism by Cell and Animal Models

Avascular necrosis of the femoral head (ANFH) is a debilitating disease that commonly leads to destruction of the hip joint in patients at middle age of life and often requires surgical intervention. Previously, we have identified the collagen type II, alpha 1 (COL2A1) gene as the ANFH disease gene. In this grant proposal, we will establish cell ine and animal models to understand the pathophysiology of ANFH, and extend our ongoing study for identifying genes responsible for non-familiar ANFH by looking into other interacting molecules of the pathway.

NCT00260897 Osteonecrosis
MeSH: Osteonecrosis Femur Head Necrosis Necrosis
HPO: Avascular necrosis Morbus Kienboeck

In the Pedigree I, a 3665G >A mutation in exon 50 of the COL2A1 gene (Genbank accession number NM_001844) and the substitution resulted in a Gly1170Ser codon change (Genbank accession number NP_001835). --- Gly1170Ser ---

HPO Nodes

Morbus Kienboeck