thr777 Secrets
thr777 Secrets
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The effect of the variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence modify affects codon 777 on the GAA mRNA. It's a 'silent' transform, that means that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be A part of the consensus splice web-site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported inside the literature in people today affected with GAA-relevant disorders.
This day represents the final time this VCV history was up to date. The update may be because of an update to one of the bundled submitted documents (SCVs), or as a consequence of an update that ClinVar designed towards the variant which include introducing HGVS expressions or even a rs range.
This column consists of more information supporting the classification, like citations, the touch upon classification, and in-depth evidence provided as observations in the variant from the submitter.
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Read through our rules for calculating the overview status. This column also features a connection into the submitter’s assertion conditions if supplied, and the collection process.
The quantity of variants in ClinVar that happen to be contained in this gene, with a hyperlink to view the listing of variants.
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Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide framework and comparison of computational equipment that predict their utilization.
Stars symbolize the aggregate evaluate standing, or the level of critique supporting the mixture germline classification for this VCV history.
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Stars depict the review position, or the extent of evaluate supporting the submitted (SCV) document. This value is calculated by NCBI depending on knowledge from your submitter.