Top thr777 Secrets
Top thr777 Secrets
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence variations on RNA splicing advise this variant may perhaps build or bolster a splice internet site. In summary, the offered evidence is presently insufficient to find out the function of this variant in illness. As a result, it has been classified as a Variant of Uncertain Significance. (considerably less)
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The volume of variants in ClinVar which are contained within just this gene, using a backlink to see the listing of variants.
This column contains additional information supporting the classification, together with citations, the comment on classification, and comprehensive proof provided as observations of the variant by the submitter.
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So this day could be different through the date with the “most recent submission” described at the top of the webpage. Aid Stick to NCBI
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The global small allele frequency calculated through the one thousand Genomes Task. The minimal allele at this site is indicated in parentheses and could be distinctive from the allele represented by this VCV record.
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