Little Known Facts About thr777.
Little Known Facts About thr777.
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence improvements on RNA splicing propose this variant may well build or improve a splice web-site. In summary, the available evidence is at present insufficient to determine the role of the variant in sickness. Hence, it's been categorized like a Variant of Uncertain Importance.
This worth is calculated by NCBI according to data from submitters. Examine our procedures for calculating the evaluation position. The quantity of submissions which contribute to this evaluate position is demonstrated in parentheses.
This day signifies the final time this VCV record was up-to-date. The update could be due to an update to one of several bundled submitted data (SCVs), or as a result of an update that ClinVar designed to the variant like introducing HGVS expressions or a rs amount.
This column includes more info supporting the classification, which include citations, the comment on classification, and detailed evidence supplied as observations of your variant with the submitter.
The problem for the classification, supplied by the submitter for this submitted (SCV) file. This column also features the impacted position and allele origin of individuals observed using this type of variant.
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Go through our principles for calculating the evaluation status. This column also features a url for the submitter’s assertion criteria if provided, and the gathering strategy.
The amount of variants in ClinVar that happen to be contained within just this gene, that has a hyperlink to look at the list of variants.
These citations are identified by LitVar utilizing the rs quantity, so They might include citations for more than one variant thr777 at this location. Remember to critique the LitVar success thoroughly to your variant of desire. Document previous up to date May 19, 2024
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The number of variants in ClinVar for this gene, which includes smaller sized variants in the gene and larger CNVs that overlap or fully consist of the gene.
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