thr777 Can Be Fun For Anyone
thr777 Can Be Fun For Anyone
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing advise that this variant may make or fortify a splice site. In summary, the offered evidence is at present insufficient to ascertain the job of the variant in condition. Hence, it's been labeled like a Variant of Uncertain Importance.
This sequence change affects codon 777 in the GAA mRNA. It is a 'silent' transform, indicating 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 can be A part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside 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 which include introducing HGVS expressions or perhaps a rs quantity.
This column incorporates additional information supporting the classification, such as citations, thr777 the touch upon classification, and thorough evidence furnished as observations in the variant from the submitter.
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Study our rules for calculating the review position. This column also includes a hyperlink towards the submitter’s assertion conditions if furnished, and the collection technique.
The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
These citations are determined by LitVar utilizing 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. History final up to date May well 19, 2024
Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
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The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or absolutely have the gene.
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