What Does thr777 Mean?

Remark: This sequence change impacts codon 777 from the GAA mRNA. It is a 'silent' improve, this 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 sixteen, that's A part of the consensus splice web page for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people afflicted with GAA-connected conditions.

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This date signifies the final time this VCV record was up to date. The update can be because of an update to among the list of included submitted information (SCVs), or resulting from an update that ClinVar made towards the variant for example introducing HGVS expressions or a rs quantity.

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The aggregate germline classification for this variant, commonly for any monogenic or Mendelian ailment as while in the ACMG/AMP guidelines, or for response to the drug. This worth is calculated by NCBI dependant on knowledge from submitters. Read our policies for calculating the combination classification.

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There's no useful proof in ClinVar for this variation. When you have produced useful facts for this variation, please think about distributing that knowledge to ClinVar.