thr777 - An Overview

thr777 - An Overview

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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the influence of sequence alterations on RNA splicing counsel that this variant may possibly produce or improve a splice internet site. In summary, the available evidence is currently inadequate to ascertain the part of the variant in disorder. Hence, it's been labeled like a Variant of Unsure Significance.

This value is calculated by NCBI depending on data from submitters. Go through our policies for calculating the evaluate position. The quantity of submissions which contribute to this evaluate status is proven in parentheses.

This day signifies the final time this VCV record was up to date. The update may very well be resulting from an update to among the provided submitted data (SCVs), or as a consequence of an update that ClinVar produced on the variant for instance introducing HGVS expressions or even a rs quantity.

The global insignificant allele frequency calculated by the a thousand Genomes Task. The slight allele at this area is indicated in parentheses and will be various in the allele represented by this VCV document.

The ailment with thr777 the classification, supplied by the submitter for this submitted (SCV) record. This column also features the impacted position and allele origin of individuals noticed using this variant.

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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, be sure to consider distributing that information 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 might include citations for more than one variant at this locale. Remember to evaluate the LitVar final results meticulously for your variant of curiosity. File past updated Could 19, 2024 

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Stars depict the aggregate review status, or the level of overview supporting the aggregate germline classification for this VCV history.

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