Top latest Five thr777 Urban news
Top latest Five thr777 Urban news
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the impact of sequence modifications on RNA splicing propose this variant may perhaps create or improve a splice web-site. In summary, the available proof is now insufficient to determine the role of this variant in illness. As a result, it's been categorized as being a Variant of Uncertain Importance.
This price is calculated by NCBI dependant on facts from submitters. Read our rules for calculating the critique status. The amount of submissions which contribute to this critique status is demonstrated in parentheses.
This day represents the final time this VCV document was up to date. The update could possibly be resulting from an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant like including HGVS expressions or simply a rs number.
This column involves more info supporting the classification, which includes citations, the comment on classification, and detailed evidence delivered as observations of the variant with the submitter.
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Browse our procedures for calculating the evaluate standing. This column also includes a hyperlink to your submitter’s assertion standards if presented, and the collection technique.
The number of variants in ClinVar which can be contained inside this gene, with a backlink to check out the listing of variants.
These citations are recognized by LitVar utilizing the rs quantity, so they may involve citations for more than one variant at this spot. Please overview the LitVar results meticulously for your variant of desire. Record last updated Could 19, 2024
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