thr777 Fundamentals Explained
thr777 Fundamentals Explained
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This sequence improve influences codon 777 with the GAA mRNA. This is a 'silent' change, this means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Section of the consensus splice website for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in men and women affected with GAA-relevant conditions.
Aberrant five' splice web pages in human disorder genes: mutation pattern, nucleotide construction and comparison of computational tools that forecast their utilization.
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There's no useful proof in ClinVar for this variation. When you've got created purposeful details for this variation, remember to take into account distributing that data to ClinVar.
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The global minimal allele frequency calculated via the one thousand Genomes Job. The insignificant allele at this location is indicated in parentheses and will be unique in the allele represented by this VCV file.
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