Comment: This sequence change has an effect on codon 777 on the GAA mRNA. It's a 'silent' change, indicating that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been reported from the literature in people afflicted with GAA-similar problems.
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These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Please critique the LitVar results thoroughly in your variant of interest. File very last updated Could 19, 2024
There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful info for this variation, remember to take into account distributing that information to ClinVar.
The distributing Business for this submitted (SCV) record. This column also includes the SCV accession and Variation variety, the date this SCV first appeared in ClinVar, and the day that this SCV was past up to date in ClinVar.
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The result of the variant on RNA or protein operate, according to experimental proof from submitters.
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The global slight allele frequency calculated because of the a thousand Genomes Venture. The slight allele at this locale is indicated in parentheses and may be various through the allele represented by this VCV report.
This value is calculated by NCBI based upon information from submitters. Read through our rules for calculating the overview position. The number of submissions which lead to this critique status is proven in parentheses.