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This sequence adjust affects codon 777 of your GAA mRNA. It is just a 'silent' alter, indicating that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that is part of the consensus splice web-site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described during the literature in persons influenced with GAA-linked conditions.
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide construction and comparison of computational instruments that predict their utilization.
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There is not any purposeful proof in ClinVar for this variation. If you have created purposeful details for this variation, please contemplate distributing that info to ClinVar.
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The global small allele frequency calculated with the one thousand Genomes Job. The insignificant allele at this place is indicated in parentheses and could be various through the allele represented by this VCV report.
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