The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the outcome of sequence adjustments on RNA splicing advise this variant may well build or strengthen a splice web page. In summary, the available proof is presently inadequate to find out the position of this variant in condition. Thus, it has been categorized as being a Variant of Unsure Importance.
This sequence improve influences codon 777 from the GAA mRNA. It's a 'silent' adjust, that means that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is A part of the consensus splice web page for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described while in the literature in individuals influenced with GAA-related problems.
This day represents the last time this VCV report was updated. The update may be resulting from an update to among the included submitted documents (SCVs), or as a consequence of an update that ClinVar produced towards the variant like including HGVS expressions or even a rs number.
The worldwide slight allele frequency calculated through the 1000 Genomes Venture. The minor allele at this site is indicated in parentheses and should be distinctive within the allele represented by this VCV report.
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Go through our procedures for calculating the evaluation status. This column also features a backlink to your submitter’s assertion conditions if presented, and the collection strategy.
The publishing Firm for this submitted (SCV) document. This column also includes the SCV accession and Variation number, the day this SCV 1st appeared in ClinVar, as well as the day that this SCV was very last up to date in ClinVar.
These citations are determined by LitVar using the rs variety, so they may include things like citations for more than one variant at this spot. Be sure to overview the LitVar success thoroughly in your variant of curiosity. History final up-to-date May 19, 2024
Aberrant 5' splice internet sites thr777 in human disorder genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
Stars represent the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV history.
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Stars depict the overview status, or the level of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI based upon facts through the submitter.