Top latest Five thr777 Urban news
Top latest Five thr777 Urban news
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The result in the variant on RNA or protein function, depending on experimental proof from submitters.
This sequence modify has an effect on codon 777 with the GAA mRNA. It's a 'silent' improve, indicating that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice website for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been noted while in the literature in folks afflicted with GAA-relevant circumstances.
This date represents the last time this VCV document was up to date. The update may be as a consequence of an update to on the list of provided submitted data (SCVs), or due to an update that ClinVar produced to your variant like introducing HGVS expressions or even a rs variety.
This column contains more info supporting the classification, like citations, the touch upon classification, and in depth evidence provided as observations of the variant from the submitter.
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Read our principles for calculating the evaluation position. This column also includes a link to the submitter’s assertion conditions if furnished, and the gathering method.
The quantity of variants in ClinVar which have been contained in just this gene, having a link to view the list of variants.
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Aberrant five' splice web sites in human ailment thr777 genes: mutation sample, nucleotide composition and comparison of computational instruments that forecast their utilization.
Stars signify the combination evaluate status, or the extent of overview supporting the combination germline classification for this VCV file.
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Stars represent the assessment status, or the extent of evaluation supporting the submitted (SCV) report. This benefit is calculated by NCBI based on knowledge from the submitter.