The influence in the variant on RNA or protein purpose, dependant on experimental proof from submitters.
This price is calculated by NCBI determined by facts from submitters. Study our procedures for calculating the overview standing. The number of submissions which add to this assessment position is demonstrated in parentheses.
This date signifies the final time this VCV history was updated. The update could possibly be because of an update to on the list of integrated submitted records (SCVs), or on account of an update that ClinVar designed into the variant for instance incorporating HGVS expressions or perhaps a rs selection.
The worldwide minimal allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and could be distinctive with the allele represented by this VCV file.
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There won't be any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, make sure you contemplate submitting that details to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to watch the list of variants.
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Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
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Stars depict the overview standing, or the level of review supporting the submitted (SCV) history. This benefit is calculated by NCBI dependant on facts with the submitter.