Little Known Facts About thr777.
Little Known Facts About thr777.
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The effect with the variant on RNA or protein function, dependant on experimental proof from submitters.
This price is calculated by NCBI according to facts from submitters. Read our guidelines for calculating the evaluate standing. The amount of submissions which add to this critique standing is revealed in parentheses.
This date represents the last time this VCV report was current. The update may very well be resulting from an update to one of the bundled submitted documents (SCVs), or due to an update that ClinVar designed into the variant for instance including HGVS expressions or a rs quantity.
The worldwide small allele frequency calculated through the a thousand Genomes Task. The minor allele at this site is indicated in parentheses and may be distinctive with the allele represented by this VCV record.
The problem with the classification, supplied by the submitter for this submitted (SCV) file. This column also includes the impacted standing and allele origin of individuals observed with this particular variant.
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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, make sure you take into consideration submitting that information to ClinVar.
The publishing Firm for this submitted (SCV) file. This column also features the SCV accession and version quantity, the date this SCV to start with appeared in ClinVar, as well as day this SCV was last up to date in ClinVar.
These citations are discovered by LitVar using the rs amount, so They might involve citations for more than one variant at this spot. Be sure to evaluation the LitVar effects carefully for the variant of curiosity. File previous up to date Could 19, 2024
Aberrant 5' splice web-sites in human sickness genes: mutation pattern, nucleotide composition and comparison of computational equipment that predict their utilization.
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Stars signify the assessment status, or the extent of overview supporting the submitted (SCV) report. This price is calculated by NCBI thr777 determined by info with the submitter.