Little Known Facts About thr777.

ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence modifications on RNA splicing propose this variant may well create or strengthen a splice web page. In summary, the readily available evidence is now inadequate to determine the role of the variant in ailment. For that reason, it's been categorized as a Variant of Uncertain Importance.

This sequence modify has an effect on codon 777 on the GAA mRNA. It's a 'silent' transform, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, that's Portion of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted while in the literature in people today affected with GAA-relevant conditions.

This date represents the last time this VCV report was current. The update could be due to an update to one of many involved submitted documents (SCVs), or because of an update that ClinVar created on the variant for instance introducing HGVS expressions or a rs quantity.

The global minor allele frequency calculated by the a thousand Genomes Job. The minor allele at this area is indicated in parentheses and will be distinct in the allele represented by this VCV record.

The affliction for your classification, furnished by the submitter for this submitted (SCV) report. This column also includes the influenced position and allele origin of people observed using this variant.

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Read through our policies for calculating the evaluate standing. This column also includes a link to the submitter’s assertion conditions if presented, and the collection method.

The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and version amount, the day this SCV 1st appeared in ClinVar, and also the date this SCV was previous current in ClinVar.

These citations are discovered by LitVar utilizing the rs quantity, so They might include citations for multiple variant at this locale. Remember to review the LitVar benefits cautiously on your variant of desire. Document previous up-to-date May 19, 2024 

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