Little Known Facts About thr777.
Little Known Facts About thr777.
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence variations on RNA splicing advise that this variant could develop or fortify a splice internet site. In summary, the obtainable evidence is at present inadequate to ascertain the job of the variant in sickness. For that reason, it has been categorized as being a Variant of Unsure Importance.
This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' alter, 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 sixteen, 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 in the literature in men and women affected with GAA-connected ailments.
There isn't a functional proof in ClinVar for this variation. When you have produced useful knowledge for this variation, you should take into account distributing that knowledge to ClinVar.
This column involves more details supporting the classification, including citations, the touch upon classification, and detailed evidence offered as observations of your variant from the submitter.
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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember thr777 to take into account distributing that details to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a link to check out the list of variants.
These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this location. Remember to review the LitVar final results diligently to your variant of fascination. Document previous current Might 19, 2024
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Stars symbolize the critique status, or the extent of assessment supporting the submitted (SCV) history. This benefit is calculated by NCBI based upon facts with the submitter.