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This sequence alter has an effect on codon 777 on the GAA mRNA. It's a 'silent' change, indicating that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's A part of the consensus splice web page for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in people today impacted with GAA-similar conditions.
The distributing Firm for this submitted (SCV) file. This column also involves the SCV accession and Model number, the day this SCV to start with appeared in ClinVar, and the day this SCV was previous up to date in ClinVar.
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So this date could be unique from the date in the “most up-to-date submission” described at the best of the page. Assist Comply with NCBI
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The global slight allele frequency calculated because of the a thousand Genomes Challenge. The insignificant allele at this location is indicated in parentheses and may be various in the allele represented by this VCV document.
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