Everything about thr777

Everything about thr777

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence variations on RNA splicing propose this variant may well build or fortify a splice web page. In summary, the accessible evidence is currently inadequate to ascertain the purpose of the variant in ailment. For that reason, it has been classified to be a Variant of Unsure Significance.

This sequence modify has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, which means 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 Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in folks influenced with GAA-related situations.

This day signifies the final time this VCV document was updated. The update could be because of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar designed into the variant such as adding HGVS expressions or even a rs variety.

This column features more info supporting the classification, which include citations, the comment on classification, and in-depth evidence offered as observations in the variant thr777 through the submitter.

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There are no citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that data to ClinVar.

The volume of variants in ClinVar which can be contained inside this gene, with a connection to look at the list of variants.

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Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.

Stars stand for the mixture evaluation position, or the extent of evaluation supporting the aggregate germline classification for this VCV history.

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The positioning is protected. The https:// ensures that you're connecting on the Formal Web-site Which any information you supply is encrypted and transmitted securely.

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