This worth is calculated by NCBI dependant on knowledge from submitters. Read our policies for calculating the review standing. The volume of submissions which contribute to this overview position is revealed in parentheses.
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Stars symbolize the mixture evaluate status, or the level of assessment supporting the mixture germline classification for this VCV report.
These citations are identified by LitVar using the rs number, so They might include things like citations for multiple variant at this place. Remember to evaluate the LitVar outcomes meticulously to your variant of desire. Record last updated May twelve, 2024
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The impact in the variant on RNA or protein operate, depending on experimental evidence from submitters.
This sequence change impacts codon 777 on the GAA mRNA. It is just a 'silent' transform, indicating that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is Component of the consensus splice web-site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described from the literature in men and women impacted with GAA-associated conditions.
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