thr777 Secrets
thr777 Secrets
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the influence of sequence alterations on RNA splicing advise that this variant could develop or reinforce a splice web page. In summary, the accessible evidence is at the moment inadequate to find out the role of the variant in illness. Thus, it's been categorized for a Variant of Uncertain Significance.
This sequence improve affects codon 777 of the GAA mRNA. It's a 'silent' improve, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be Element of the consensus splice web page for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in individuals afflicted with GAA-similar ailments.
There is no purposeful proof in ClinVar for this variation. Should you have generated functional info for this variation, make sure you look at submitting that facts to ClinVar.
This column features additional information supporting the classification, such as citations, the touch upon classification, thr777 and specific evidence presented as observations in the variant by the submitter.
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There won't be any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, remember to take into account distributing that details to ClinVar.
The volume of variants in ClinVar which might be contained within just this gene, that has a hyperlink to perspective the listing of variants.
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Stars signify the aggregate evaluation position, or the extent of assessment supporting the combination germline classification for this VCV history.
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