The result of the variant on RNA or protein perform, dependant on experimental proof from submitters.
This sequence alter influences codon 777 of your GAA mRNA. It is a 'silent' transform, which means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside the literature in men and women influenced with GAA-linked conditions.
This date signifies the last time this VCV file was up-to-date. The update may be due to an update to one of many bundled submitted documents (SCVs), or due to an update that ClinVar created towards the variant like incorporating HGVS expressions or simply a rs selection.
The worldwide insignificant allele frequency calculated through the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and may be unique through the allele represented by this VCV file.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also features the affected status and allele origin of people observed with this particular variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please look at publishing that facts to ClinVar.
The submitting Business for this submitted (SCV) history. This column also includes the SCV accession and Variation number, the day this SCV initial appeared in ClinVar, along with the date that this SCV was past up-to-date in ClinVar.
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Aberrant 5' splice web-sites in human disease genes: mutation pattern, nucleotide construction and comparison of computational instruments that predict their utilization.
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The volume of variants in ClinVar for this gene, which include lesser variants throughout the gene and larger CNVs that overlap or absolutely incorporate the gene.
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