The link thr777 Diaries
The link thr777 Diaries
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Remark: This sequence transform affects codon 777 from the GAA mRNA. This is a 'silent' transform, which means that it does not change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Portion of the consensus splice web-site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in individuals afflicted with GAA-relevant conditions.
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These citations are determined by LitVar utilizing the rs range, so They might incorporate citations for more than one variant at this place. Make sure you review the LitVar success cautiously for your variant of fascination. Document past up to date May 19, 2024
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This date represents the last time this VCV record was up to date. The update might be as a result of an update to on the list of bundled submitted data (SCVs), or resulting from an update that ClinVar manufactured on the variant including adding HGVS expressions or perhaps a rs number.
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The impact in the variant on RNA or protein perform, dependant on experimental proof from submitters.
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