5 Easy Facts About thr777 Described

5 Easy Facts About thr777 Described

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the result of sequence changes on RNA splicing suggest this variant may well create or reinforce a splice website. In summary, the available proof is at this time inadequate to determine the job of the variant in sickness. As a result, it has been labeled to be a Variant of Unsure Significance.

This sequence modify influences codon 777 on the GAA mRNA. It's a 'silent' transform, meaning that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, that's A part of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been described from the literature in men and women afflicted with GAA-associated situations.

This date signifies the final time this VCV report was up-to-date. The update can be because of an update to one of many integrated submitted documents (SCVs), or because of an update that ClinVar created into the variant for instance introducing HGVS expressions or perhaps a rs amount.

The worldwide minimal allele frequency calculated by the a thousand Genomes Venture. The insignificant allele at this area is indicated in parentheses and will be diverse from your allele represented by this VCV document.

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There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, make sure you look at distributing that details to ClinVar.

The submitting Group for this submitted (SCV) document. This column also includes the SCV accession and Model number, the day this SCV first appeared in ClinVar, as well as day this SCV was last up-to-date in ClinVar.

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Aberrant 5' splice web-sites in human disease genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.

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Stars represent the review position, or the level of critique supporting the submitted (SCV) report. This worth is calculated by NCBI determined by details from your submitter.