thr777 Secrets
thr777 Secrets
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence alterations on RNA splicing advise this variant may possibly generate or fortify a splice web site. In summary, the available evidence is presently insufficient to ascertain the job of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Importance.
This benefit is calculated by NCBI based upon data from submitters. Go through our policies for calculating the critique standing. The volume of submissions which add to this assessment position is revealed in parentheses.
There is absolutely no practical evidence in ClinVar for this variation. Should you have created purposeful details for this variation, make sure you take into account distributing that info to ClinVar.
The worldwide minimal allele frequency calculated via the one thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be various in the allele represented by this VCV history.
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There aren't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, you should consider publishing that facts to ClinVar.
The volume of variants in ClinVar which can be contained within this gene, with a website link to perspective the list of variants.
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Stars characterize the mixture evaluation position, or the level of overview supporting the combination germline classification for this VCV history.
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