Comment: This sequence transform influences codon 777 from the GAA mRNA. It is just a 'silent' improve, indicating that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Element of the consensus splice internet site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been reported during the literature in people today impacted with GAA-associated situations.
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This column incorporates more information supporting the classification, like citations, the touch upon classification, and detailed proof delivered as observations of your variant with the submitter.
The volume of variants in ClinVar for this gene, like lesser variants inside the gene and bigger CNVs that overlap or fully have the gene.
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The aggregate germline classification for this variant, commonly to get a monogenic or Mendelian problem as while in the ACMG/AMP tips, or for response to a drug. This worth is calculated by NCBI according to information from submitters. Go through our guidelines for calculating the combination classification.
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Browse our guidelines for calculating the overview standing. This column also features a link into the submitter’s assertion conditions if supplied, and the collection approach.