thr777 Secrets
thr777 Secrets
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence changes on RNA splicing suggest that this variant may possibly build or fortify a splice site. In summary, the obtainable evidence is at the moment inadequate to ascertain the role of the variant in disorder. Thus, it has been classified for a Variant of Uncertain Significance.
This benefit is calculated by NCBI based on data from submitters. Study our policies for calculating the overview status. The quantity of submissions which contribute to this evaluate status is revealed in parentheses.
There's no practical evidence in ClinVar for this variation. When you have generated purposeful data for this variation, please consider publishing that facts to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Venture. The slight allele at this site is indicated in parentheses and should be distinctive from your allele represented by this VCV document.
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The aggregate germline classification for this variant, commonly for the monogenic or Mendelian ailment as inside the ACMG/AMP suggestions, or for response to the drug. This value is calculated by NCBI based on knowledge from submitters. Read our procedures for calculating the aggregate classification.
Read our principles for calculating the evaluate position. This column also features a hyperlink to the submitter’s thr777 assertion requirements if furnished, and the gathering system.
The quantity of variants in ClinVar that happen to be contained in this gene, using a link to see the list of variants.
These citations are determined by LitVar utilizing the rs range, so They might consist of citations for multiple variant at this location. Be sure to assessment the LitVar benefits carefully for the variant of fascination. File past current Might 19, 2024
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Stars represent the combination evaluation status, or the extent of critique supporting the combination germline classification for this VCV record.
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Stars symbolize the evaluation position, or the level of assessment supporting the submitted (SCV) file. This worth is calculated by NCBI determined by knowledge with the submitter.