Top Guidelines Of thr777
Top Guidelines Of thr777
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This sequence improve influences codon 777 on the GAA mRNA. It's a 'silent' modify, indicating that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice web site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented within the literature in persons affected with GAA-associated conditions.
Aberrant 5' splice web-sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.
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These citations are identified by LitVar using the rs number, so They might include things like citations for multiple variant at this place. Make sure you assessment login thr777 the LitVar success diligently for your personal variant of fascination. Document final up to date May well 19, 2024
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The worldwide small allele frequency calculated via the a thousand Genomes Challenge. The small allele at this locale is indicated in parentheses and may be distinct with the allele represented by this VCV history.
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