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This sequence adjust has an effect on codon 777 of your GAA mRNA. It's really a 'silent' transform, indicating that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported from the literature in folks affected with GAA-relevant conditions.
This column consists of more information supporting the classification, together with citations, the touch upon classification, and thorough proof presented as observations in the variant from the submitter.
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The publishing Group for this submitted (SCV) file. This column also contains the SCV accession and version quantity, the day this SCV 1st appeared in ClinVar, along with the date this SCV was final current in ClinVar.
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Stars depict the mixture overview standing, or the level of assessment supporting the aggregate germline classification for this VCV document.
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