Remark: This sequence alter influences codon 777 on the GAA mRNA. It's a 'silent' alter, meaning that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is Component of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented within the literature in people today impacted with GAA-related circumstances.
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The condition to the classification, furnished by the submitter for this submitted (SCV) document. This column also incorporates the influenced position and allele origin of people observed with this particular variant.
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These citations are identified by LitVar using the rs range, so They might involve citations for multiple variant at this location. Please assessment the LitVar final results meticulously in your variant of fascination. Report past up-to-date May well 12, 2024
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