Remark: This sequence adjust has an effect on codon 777 with the GAA mRNA. It's really a 'silent' transform, which means that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, and that is Portion of the consensus splice web site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been reported while in the literature in people today affected with GAA-relevant circumstances.
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The mixture germline classification for this variant, usually to get a monogenic or Mendelian disorder as from the ACMG/AMP tips, or for response to some drug. This worth is calculated by NCBI depending on data from submitters. Browse our rules for calculating the aggregate classification.
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The worldwide slight allele frequency calculated by the one thousand Genomes Venture. The insignificant allele at this location is indicated in parentheses and will be distinct from the allele represented by this VCV document.
There isn't any useful proof in ClinVar for this variation. When you've got created functional facts for this variation, please look at submitting that info to ClinVar.