thr777 - An Overview
thr777 - An Overview
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These citations are determined by LitVar utilizing the rs selection, so They could include citations for multiple variant at this location. Please evaluation the LitVar final results meticulously on your variant of interest. Document final updated May twelve, 2024
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This sequence improve has an effect on codon 777 of the GAA mRNA. It is a 'silent' change, meaning that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Element of the consensus splice web page for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been noted inside the literature in folks affected with GAA-similar disorders.
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