Not known Factual Statements About link thr777
Not known Factual Statements About link thr777
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Remark: This sequence change impacts codon 777 from the GAA mRNA. It's really a 'silent' adjust, that means that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is part of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed while in the literature in people influenced with GAA-associated ailments.
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The issue for the classification, supplied by the submitter for this submitted (SCV) report. This column also includes the impacted standing and allele origin of individuals observed using this variant.
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The outcome from the variant on RNA or protein perform, depending on experimental evidence from submitters.
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