Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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The outcome of the variant on RNA or protein purpose, based upon experimental proof from submitters.
This sequence modify affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change 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 present in population databases (rs375311693, gnomAD 0.03%). This variant has not been noted within the literature in folks impacted with GAA-relevant disorders.
This day signifies the final time this VCV report was updated. The update can be due to an update to among the list of included submitted information (SCVs), or on account of an update that ClinVar built towards the variant including incorporating HGVS expressions or maybe a rs selection.
The worldwide minimal allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique with the allele represented by this VCV file.
The problem for the classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed with this variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, be sure to contemplate distributing that info to ClinVar.
The publishing Group for this submitted (SCV) document. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, and the date this SCV was last up-to-date in ClinVar.
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Aberrant five' splice web pages in human disease genes: mutation pattern, nucleotide structure and comparison of computational resources that forecast their utilization.
Stars symbolize the aggregate overview status, or the level of evaluate supporting the combination germline classification for this VCV report.
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Stars symbolize the evaluation status, thr777 or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI depending on information in the submitter.