thr777 Options
thr777 Options
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence changes on RNA splicing suggest this variant may possibly build or strengthen a splice web-site. In summary, the accessible proof is presently insufficient to determine the role of the variant in disorder. Thus, it has been classified as a Variant of Unsure Significance.
This worth is calculated by NCBI according to details from submitters. Examine our policies for calculating the critique status. The volume of submissions which lead to this evaluation position is shown in parentheses.
There isn't any functional proof in ClinVar for this variation. If you have created purposeful facts for this variation, you should look at distributing that facts to ClinVar.
The worldwide minimal allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
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The mixture germline classification for this variant, commonly for just a monogenic or Mendelian condition as inside the ACMG/AMP pointers, or for reaction to your drug. This price is calculated by NCBI dependant on data from submitters. Study our principles for calculating the aggregate classification.
Examine our regulations for calculating the overview standing. This column also features a backlink to your submitter’s assertion requirements if supplied, and the gathering strategy.
The submitting Corporation for this submitted (SCV) file. This column also consists of the SCV accession and Model amount, the day this SCV initial appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.
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Stars characterize the mixture evaluation position, or the level of overview supporting the combination germline classification for this VCV file.
The positioning is secure. The https:// ensures that you will be connecting into the official Web-site and that any information you give is encrypted and transmitted securely.
The website is protected. The https:// ensures that you are connecting towards the official Web-site Which any info you give is encrypted and transmitted securely.
Stars signify the evaluation position, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI depending on info in the submitter.