Everything about thr777
Everything about thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the influence of sequence alterations on RNA splicing advise this variant might generate or bolster a splice site. In summary, the readily available proof is currently inadequate to find out the position of this variant in illness. Thus, it's been categorized being a Variant of Uncertain Significance.
This benefit is calculated by NCBI based on facts from submitters. Read through our guidelines for calculating the critique standing. The amount of submissions which add to this evaluate status is proven in parentheses.
There is not any functional evidence in ClinVar for this variation. Should you have created useful facts for this variation, make sure you consider publishing that details to ClinVar.
The worldwide slight allele frequency calculated with the 1000 Genomes Project. The slight allele at this spot is indicated in parentheses and will be various in the allele represented by this VCV history.
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The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Examine our rules for calculating the combination classification.
There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please consider publishing that information and facts to ClinVar.
The number of variants in ClinVar that happen to be contained within this gene, using a backlink to look at the list of variants.
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Stars stand for the mixture assessment position, or the level of evaluation supporting the combination germline classification for this VCV file.
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