Fascination About slot thr777
Fascination About slot thr777
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The volume of variants in ClinVar which might be contained within just this gene, with a link to check out the listing of variants.
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Read our rules for calculating the evaluate standing. This column also includes a link to the submitter’s assertion standards if delivered, and the collection strategy.
ClinVar consists of 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 produced to predict the outcome of sequence alterations on RNA splicing propose this variant may possibly produce or strengthen a splice internet site. In summary, the out there proof is at present inadequate to determine the purpose of this variant in ailment. Consequently, it has been categorised as being a Variant of Uncertain Significance. OK
These citations are identified by LitVar using the rs selection, so They might include citations for more than one variant at this locale. Remember to assessment the LitVar outcomes diligently in your variant of interest. Report previous current May 19, 2024
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This date represents the last time this VCV history was updated. The update could possibly be due to an update to one of several bundled submitted records (SCVs), or on account of an update that ClinVar made towards the variant for instance introducing HGVS expressions or possibly a rs selection.
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This sequence improve has an effect on codon 777 of your GAA mRNA. It's really a 'silent' improve, this means that it doesn't alter slot thr777 the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Element of the consensus splice site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been noted while in the literature in men and women impacted with GAA-associated ailments.
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