thr777 No Further a Mystery
thr777 No Further a Mystery
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The result in the variant on RNA or protein perform, depending on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The number of submissions which lead to this evaluation standing is shown in parentheses.
This day signifies the final time this VCV history was updated. The update could possibly be due to an update to one of several involved submitted documents (SCVs), or because of an update that ClinVar created on the variant which include introducing HGVS expressions or a rs quantity.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and will be distinct in the allele represented by this VCV history.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the impacted position and allele origin of individuals observed with this variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.
The distributing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the date that this SCV was previous up-to-date in ClinVar.
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Aberrant 5' splice sites in human sickness genes: mutation sample, nucleotide structure and comparison of computational applications that forecast their utilization.
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Stars depict the overview standing, or the level of assessment supporting the submitted (SCV) report. This value is calculated by NCBI based upon facts in the submitter.