Not known Factual Statements About link thr777
Not known Factual Statements About link thr777
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Remark: This sequence modify affects codon 777 of your GAA mRNA. This is a 'silent' alter, this means that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Section of the consensus splice website for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described inside the literature in individuals influenced with GAA-related problems.
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence changes on RNA splicing counsel this variant may possibly develop or fortify a splice web-site. In summary, the readily available evidence is presently inadequate to determine the job of this variant in disease. Therefore, it has been categorised as being a Variant of Unsure Significance. (fewer)
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The distributing Firm for this submitted (SCV) file. This column also consists of the SCV accession and version selection, the date link alternatif thr777 this SCV first appeared in ClinVar, as well as day that this SCV was past up to date in ClinVar.
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The worldwide minor allele frequency calculated through the one thousand Genomes Job. The minor allele at this place is indicated in parentheses and may be diverse with the allele represented by this VCV history.
This benefit is calculated by NCBI dependant on info from submitters. Browse our principles for calculating the critique status. The amount of submissions which lead to this evaluate status is proven in parentheses.