Facts About thr777 Revealed

Facts About thr777 Revealed

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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 popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence changes on RNA splicing propose this variant might develop or bolster a splice internet site. In summary, the accessible proof is presently insufficient to find out the role of the variant in sickness. Therefore, it's been labeled like a Variant of Unsure Significance.

This price is calculated by NCBI determined by info from submitters. Read our rules for calculating the evaluate standing. The number of submissions which lead to this evaluation position is proven in parentheses.

There is no functional proof in ClinVar for this variation. If you have created purposeful facts for this variation, be sure to consider publishing that facts to ClinVar.

The global small allele frequency calculated from the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be various from the allele represented by this VCV report.

The problem for the classification, supplied by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed using this type of variant.

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There aren't any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that facts to ClinVar.

The volume of variants in ClinVar which have been contained within just this gene, using a hyperlink to view the list of variants.

These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this area. Be sure to assessment the LitVar success very carefully in your variant of interest. Document very last current Might 19, 2024 

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Stars depict the aggregate review position, or the level of evaluate supporting the mixture germline classification for this VCV document.

The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or totally comprise the gene.

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The location is secure. The https:// ensures that you'll be connecting into the official Web site Which any details you offer is encrypted and transmitted securely.