Fascination About slot thr777
Fascination About slot thr777
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Remark: This sequence alter has an effect on codon 777 from the GAA mRNA. This is a 'silent' transform, indicating that it doesn't alter the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice web site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been described during the literature in folks impacted with GAA-connected disorders.
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The problem with the classification, provided by the submitter for this submitted (SCV) file. This column also features the afflicted status and allele origin of individuals observed using this variant.
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So this day may very well be different from the day with the “most up-to-date submission” documented at the very best of this page. Help Follow NCBI
The worldwide small allele frequency calculated because of the a thousand Genomes Venture. The insignificant allele at this site is indicated in parentheses and will be unique from the allele represented by this VCV file.
This column features more information supporting the classification, slot thr777 like citations, the touch upon classification, and in-depth proof supplied as observations in the variant because of the submitter.
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This date represents the last time this VCV record was updated. The update could be resulting from an update to on the list of integrated submitted information (SCVs), or because of an update that ClinVar manufactured for the variant including adding HGVS expressions or a rs selection.
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The influence with the variant on RNA or protein purpose, based upon experimental evidence from submitters.
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