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This sequence transform impacts codon 777 from the GAA mRNA. It is a 'silent' improve, that means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is 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 situations.
Stars represent the critique standing, or the level of assessment supporting the submitted (SCV) history. This worth is calculated by NCBI determined by information with the submitter.
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Stars stand for the combination critique standing, or the extent of overview supporting the aggregate germline classification for this VCV history.
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These citations are discovered by LitVar using the rs selection, so They could include citations for more than one variant at this location. Please evaluation the LitVar final results meticulously in your variant of fascination. Report very last up-to-date Could 19, 2024
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