The 2-Minute Rule for thr777
The 2-Minute Rule for thr777
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The amount of variants in ClinVar which might be contained inside of this gene, which has a hyperlink to watch the listing of variants.
This column incorporates additional information supporting the classification, like citations, the touch upon classification, and thorough evidence provided as observations of your variant because of the submitter.
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence changes on RNA splicing suggest this variant may make or fortify a splice web page. In summary, the accessible evidence is at present insufficient to find out the function of this variant in ailment. For that reason, it has been categorized as being a Variant of Uncertain Importance. Okay
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The global slight allele frequency calculated with the one thousand Genomes Task. The slight allele at this spot is indicated in parentheses and will be distinct from your allele represented by this VCV history.
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