A Review Of slot thr777
A Review Of slot thr777
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Remark: This sequence modify impacts codon 777 on the GAA mRNA. It is just a 'silent' alter, meaning 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, which happens to be Component of the consensus splice web site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in persons influenced with GAA-similar problems.
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the effect of sequence alterations on RNA splicing recommend this variant could produce or fortify a splice internet site. In summary, the accessible proof is presently inadequate to determine the function of the variant in illness. Hence, it has been labeled as being a Variant of Unsure Importance. (significantly less)
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These citations are determined by LitVar utilizing the rs amount, so They could link alternatif thr777 contain citations for multiple variant at this location. You should evaluation the LitVar benefits cautiously to your variant of curiosity. Document final up-to-date May 19, 2024
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Aberrant five' splice web-sites in human sickness genes: mutation pattern, nucleotide structure and comparison of computational instruments that forecast their utilization.
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and larger CNVs that overlap or entirely contain the gene.
The number of variants in ClinVar which might be contained in just this gene, using a link to look at the list of variants.
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This benefit is calculated by NCBI depending on data from submitters. Read through our guidelines for calculating the overview standing. The volume of submissions which lead to this evaluate status is demonstrated in parentheses.