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This sequence adjust affects codon 777 of the GAA mRNA. It's really a 'silent' transform, that means that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Element 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 within the literature in people today impacted with GAA-similar problems.
Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
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These citations are identified by LitVar using the rs variety, so they may consist of citations for more than one variant at this spot. You should review the LitVar outcomes meticulously in your variant of desire. Report very last up-to-date May well 19, 2024
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The global insignificant allele frequency calculated with the one thousand Genomes Undertaking. The insignificant allele at this site is indicated in parentheses and may be diverse from the allele represented by this VCV document.
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