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The aggregate germline classification for this variant, ordinarily for just a monogenic or Mendelian ailment as from the ACMG/AMP tips, or for response to some drug. This benefit is calculated by NCBI based upon knowledge from submitters. Read through our regulations for calculating the aggregate classification.

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This sequence improve affects codon 777 of your GAA mRNA. It is a 'silent' transform, this means that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Portion of the consensus splice web-site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in men and women influenced with GAA-related ailments.

This column includes additional information supporting the classification, including citations, the comment on classification, and comprehensive evidence furnished as observations from the variant from the submitter.

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Stars stand for the aggregate evaluate standing, or the extent of assessment supporting the aggregate germline classification for this VCV login thr777 file.

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The global small allele frequency calculated through the one thousand Genomes Undertaking. The slight allele at this spot is indicated in parentheses and may be different from the allele represented by this VCV record.

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