thr777 No Further a Mystery
thr777 No Further a Mystery
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the effect of sequence modifications on RNA splicing propose that this variant may perhaps make or bolster a splice website. In summary, the available evidence is currently insufficient to ascertain the part of the variant in illness. Consequently, it has been categorized as a Variant of Uncertain Significance.
This sequence transform impacts codon 777 of the GAA mRNA. It is just a 'silent' improve, this means that it doesn't alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons affected with GAA-relevant problems.
This date represents the final time this VCV file was up-to-date. The update may very well be resulting from an update to one of the included submitted documents (SCVs), or as a result of an update that ClinVar manufactured into the variant such as adding HGVS expressions or possibly a rs range.
This column involves more info supporting the classification, together with citations, the touch upon classification, and in-depth proof offered as observations from the variant via the submitter.
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Go through our guidelines for calculating the evaluation position. This column also features a backlink to your submitter’s assertion requirements if presented, and the gathering strategy.
The amount of variants in ClinVar which can be contained within this gene, which has a backlink to check out the listing of variants.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this site. Make sure you evaluate the LitVar effects diligently for the variant of curiosity. History previous current Could 19, 2024
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Stars characterize the evaluate position, thr777 or the level of review supporting the submitted (SCV) history. This value is calculated by NCBI based on knowledge within the submitter.