An Unbiased View of link thr777
An Unbiased View of link thr777
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This value is calculated by NCBI depending on info from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this critique status is proven in parentheses.
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The global slight allele frequency calculated via the 1000 Genomes Task. The insignificant allele at this area is indicated in parentheses and should be distinctive in the allele represented by this VCV report.
This column incorporates more information supporting the classification, which includes citations, the touch upon classification, and in-depth proof furnished as observations from the variant because of the submitter.
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The distributing Firm for this submitted (SCV) document. This column also consists of the SCV accession and version number, the day this SCV initially appeared in ClinVar, plus the date that this SCV was final updated in ClinVar.
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This day signifies the final time this VCV report was up-to-date. The update can be as a consequence of an update to one of the included submitted documents (SCVs), or as a consequence of an update that ClinVar made to the variant which include introducing HGVS expressions or possibly a rs number.
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This sequence transform influences codon 777 with the GAA mRNA. It is just a 'silent' transform, indicating that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Element of the consensus splice web page for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented inside the literature in folks affected with GAA-related disorders.
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