Facts About link thr777 Revealed
Facts About link thr777 Revealed
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The situation for that classification, furnished by the submitter for this submitted (SCV) document. This column also incorporates the affected status and allele origin of individuals observed with this particular variant.
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These citations are recognized by LitVar using the rs variety, so They might involve citations for multiple variant at this location. Please evaluation the LitVar final results meticulously for your personal variant of desire. Record last current May twelve, 2024
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This sequence modify impacts codon 777 from the GAA mRNA. It's a 'silent' alter, which means that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, login thr777 which is part of the consensus splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in persons impacted with GAA-associated conditions.
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