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This sequence modify has an effect on codon 777 of your GAA mRNA. It's a 'silent' adjust, that means that it doesn't alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which is Portion of the consensus splice web-site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed while in the literature in men and women afflicted with GAA-linked situations.
The submitting Business for this submitted (SCV) history. This column also features the SCV accession and Variation selection, the day this SCV initially appeared in ClinVar, as well as day that this SCV was final updated in ClinVar.
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There is no purposeful proof in ClinVar for this variation. Should you have produced practical information for this variation, please consider publishing that knowledge to ClinVar.
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These citations are identified by LitVar utilizing the rs range, so They might incorporate citations for more than one variant at this login thr777 location. Be sure to evaluate the LitVar effects thoroughly on your variant of curiosity. Record final current May well 12, 2024
Stars signify the evaluation position, or the level of review supporting the submitted (SCV) history. This price is calculated by NCBI depending on information within the submitter.
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