Little Known Facts About thr777.
Little Known Facts About thr777.
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ClinVar consists of 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 made to forecast the outcome of sequence alterations on RNA splicing advise this variant may perhaps create or strengthen a splice web site. In summary, the out there proof is at this time inadequate to find out the job of the variant in disorder. Thus, it's been classified being a Variant of Uncertain Significance.
This worth is calculated by NCBI based on information from submitters. Browse our policies for calculating the critique status. The number of submissions which contribute to this assessment standing is proven in parentheses.
There's no practical evidence in ClinVar for this variation. When you have generated functional data for this variation, please consider publishing that details to ClinVar.
The worldwide small allele frequency calculated by the one thousand Genomes Venture. The small allele at this location is indicated in parentheses and will be various from the allele represented by this VCV history.
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The mixture germline classification for this variant, generally for just a monogenic or Mendelian condition as within the ACMG/AMP guidelines, or for reaction to the drug. This price is calculated by NCBI based on information from submitters. Study our principles for calculating the mixture classification.
Study our policies for calculating the critique standing. This column also includes a connection to your submitter’s assertion standards if offered, and the collection process.
The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to look at the list of variants.
These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Be sure to assessment the LitVar success cautiously in your variant of interest. Document very last updated May possibly 19, 2024
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