Rumored Buzz on thr777
Rumored Buzz on thr777
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ClinVar includes 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 might develop or reinforce a splice web site. In summary, the out there proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorized as being a Variant of Unsure Significance.
This worth is calculated by NCBI according to info from submitters. Study our rules for calculating the evaluate standing. The number of submissions which lead to this evaluation position is shown in parentheses.
There is no functional proof in ClinVar for this variation. If you have created useful data for this variation, remember to contemplate submitting that knowledge to ClinVar.
The worldwide minimal allele frequency calculated from the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct in the allele represented by this VCV history.
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There won't be any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, be sure to consider publishing that information and facts to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
These citations are discovered by LitVar using the rs variety, so They could contain citations for more than one variant at this area. Remember to assessment the LitVar effects cautiously in your variant of desire. Document final up-to-date May 19, 2024
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Stars symbolize the aggregate evaluate standing, or the extent of critique supporting the aggregate germline classification for this VCV history.
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Stars signify the review position, or the extent of overview supporting the submitted (SCV) file. This value is calculated by NCBI according to data from the submitter.