The best Side of slot thr777
The best Side of slot thr777
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Remark: This sequence transform affects codon 777 with the GAA mRNA. It's a 'silent' change, indicating that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Section of the consensus splice web-site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been described from the literature in men and women affected with GAA-connected conditions.
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These citations are discovered by LitVar utilizing the rs quantity, so They might incorporate citations for multiple variant at this location. Make sure you overview the LitVar effects diligently for the variant of interest. Document past up to date May possibly 12, 2024
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The submitting Business for this submitted (SCV) document. This column also features the SCV accession and version amount, the date this SCV initial appeared in ClinVar, and also the date this SCV was very last up-to-date in ClinVar.
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