The mixture germline classification for this variant, generally for any monogenic or Mendelian disorder as in the ACMG/AMP rules, or for reaction to your drug. This price is calculated by NCBI determined by details from submitters. Read through our principles for calculating the aggregate classification.

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This sequence modify affects codon 777 with the GAA mRNA. This is a 'silent' alter, this means that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Portion of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in individuals influenced with GAA-related ailments.

Stars represent the evaluate standing, or the level of evaluate supporting the submitted (SCV) report. This worth is calculated by NCBI based on knowledge in the submitter.

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Stars symbolize the aggregate evaluation position, or the level of review supporting thr777 the mixture germline classification for this VCV record.

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Examine our regulations for calculating the evaluate standing. This column also features a website link on the submitter’s assertion conditions if presented, and the collection strategy.

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