Top Guidelines Of thr777
Top Guidelines Of thr777
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Stars characterize the critique standing, or the level of assessment supporting the submitted (SCV) file. This worth is calculated by NCBI determined by knowledge from your submitter.
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There isn't a practical evidence in ClinVar for this variation. Should you have created functional data for this variation, make sure you look at publishing that data to ClinVar.
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence adjustments on RNA splicing propose that this variant could create or strengthen a splice website. In summary, the accessible evidence is currently inadequate to ascertain the position of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Significance. Okay
These citations are identified by LitVar using the rs amount, so They might consist of citations for more than one variant at this spot. You should assessment the LitVar benefits thoroughly for your personal variant of interest. Record last current May perhaps 19, 2024
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The worldwide minor allele frequency calculated from the one thousand Genomes Task. The slight allele at this spot is indicated in parentheses and should be diverse with the allele represented by this VCV report.
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