Fascination About thr777
Fascination About thr777
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The number of variants in ClinVar that are contained within this gene, having a link to perspective the list of variants.
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence alterations on RNA splicing recommend that this variant may perhaps build or bolster a splice website. In summary, the available proof is at the moment insufficient to ascertain the function of this variant in condition. Consequently, it has been categorised being a Variant of Unsure Importance. (significantly less)
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The global minimal allele frequency calculated by the a thousand Genomes Venture. The minimal allele at this locale is indicated in parentheses and may be distinct within the allele represented by this VCV record.
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This column features more details supporting the classification, together with citations, the comment on classification, and in-depth proof supplied as observations on the variant via the submitter.
The problem with the classification, provided by the submitter for this submitted (SCV) file. This column also features the affected status and allele origin of individuals noticed using this variant.
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Stars stand for the critique standing, or the level of assessment supporting the submitted (SCV) report. This price is calculated by NCBI based upon info in the submitter.
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