Detailed Notes on thr777

Detailed Notes on thr777

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the result of sequence changes on RNA splicing recommend that this variant may make or strengthen a splice website. In summary, the readily available proof is at this time inadequate to determine the function of the variant in disorder. Thus, it's been categorised for a Variant of Uncertain Significance.

This benefit is calculated by NCBI dependant on facts from submitters. Read through our policies for calculating the assessment position. The quantity of submissions which contribute to this evaluate standing is shown in parentheses.

There isn't a functional proof in ClinVar for this variation. In case you have produced useful info for this variation, make sure you think about submitting that data to ClinVar.

This column incorporates more details supporting the classification, together with citations, the comment on classification, and in depth evidence offered as observations of your variant from the submitter.

The affliction for your classification, supplied by the submitter for this submitted (SCV) history. This column also consists of the influenced status and allele origin of people observed with this variant.

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There won't be any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, be sure to contemplate distributing that information and facts to ClinVar.

The quantity of variants in ClinVar which are contained in just this gene, by using a url to look at the listing of variants.

These citations are identified by LitVar utilizing the rs quantity, so They could include citations for multiple variant at this spot. Please critique the LitVar final results meticulously for the variant of interest. File last up-to-date May perhaps 19, 2024 

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Stars depict the aggregate review standing, or the extent of assessment thr777 supporting the combination germline classification for this VCV history.

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Stars symbolize the evaluation standing, or the extent of evaluation supporting the submitted (SCV) history. This worth is calculated by NCBI dependant on information within the submitter.