thr777 Options
thr777 Options
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing propose that this variant could generate or improve a splice web-site. In summary, the available proof is now inadequate to determine the part of this variant in disease. Therefore, it's been labeled like a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon facts from submitters. Go through our principles for calculating the critique position. The quantity of submissions which contribute to this evaluate standing is shown in parentheses.
There is not any practical evidence in ClinVar for this variation. For those who have generated functional information for this variation, make sure you contemplate submitting that data to ClinVar.
This column consists of more information supporting the classification, together with citations, the touch upon classification, and comprehensive proof presented as observations on the variant from the submitter.
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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that data to ClinVar.
The quantity of variants in ClinVar which are contained inside of this gene, having a hyperlink to view the listing of variants.
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Stars signify the combination evaluate standing, or the level of evaluate supporting the combination germline classification for this VCV record.
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