The thr777 Diaries
The thr777 Diaries
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The outcome with the variant on RNA or protein operate, based upon experimental evidence from submitters.
This value is calculated by NCBI based on details from submitters. Browse our procedures for calculating the evaluation status. The volume of submissions which lead to this review position is shown in parentheses.
This date represents the final time this VCV history was current. The update could possibly be because of an update to one of several bundled submitted records (SCVs), or as a result of an update that ClinVar designed into the variant such as adding HGVS expressions or simply a rs variety.
This column involves more information supporting the classification, together with citations, the touch upon classification, and detailed evidence supplied as observations of the variant because of the submitter.
The ailment for that classification, provided by the submitter for this submitted (SCV) report. This column also involves the afflicted standing and allele origin of people noticed with this particular variant.
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Go through our principles for calculating the assessment 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 which are contained within this gene, that has a url to see the listing of variants.
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Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
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The amount of variants in ClinVar for this gene, such as smaller variants inside the gene and larger CNVs that overlap or completely include the gene.
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Stars signify the overview position, or the extent of evaluation supporting the submitted (SCV) thr777 history. This benefit is calculated by NCBI dependant on details with the submitter.