5 Easy Facts About thr777 Described
5 Easy Facts About thr777 Described
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The outcome with the variant on RNA or protein purpose, based upon experimental evidence from submitters.
This benefit is calculated by NCBI determined by knowledge from submitters. Study our principles for calculating the evaluation position. The amount of submissions which add to this overview status is demonstrated in parentheses.
This day signifies the final time this VCV record was updated. The update can be as a result of an update to among the list of included submitted records (SCVs), or resulting from an update that ClinVar designed towards the variant for example incorporating HGVS expressions or simply a rs number.
This column consists of 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 with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the affected standing and allele origin of people noticed using this variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, you should take into consideration publishing that facts to ClinVar.
The quantity of variants in ClinVar which can be contained in this gene, which has a backlink to look at the listing of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for more than one variant at this locale. Remember to evaluate the LitVar final results diligently for the variant of fascination. History final up to date May well 19, 2024
Aberrant 5' splice web pages in human sickness genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.
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The location is secure. The https:// makes sure that you'll be connecting for the official Web page Which any details you present is encrypted and transmitted securely.
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Stars stand for the evaluate position, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI based on data from the submitter.