Examine This Report on thr777
Examine This Report on thr777
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The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This worth is calculated by NCBI based upon knowledge from submitters. Go through our guidelines for calculating the review standing. The number of submissions which add to this assessment position is proven in parentheses.
This date represents the final time this VCV report was current. The update could be due to an update to one of several bundled submitted records (SCVs), or because of an update that ClinVar manufactured to your variant such as incorporating HGVS expressions or even a rs variety.
The worldwide slight allele frequency calculated through the 1000 Genomes Challenge. The minor allele at this spot is indicated in parentheses and will be various in the allele represented by this VCV document.
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There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please consider submitting that facts to ClinVar.
The amount of variants in ClinVar which might be contained within this gene, by using a website link to see the listing of variants.
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Aberrant five' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational equipment that predict their utilization.
Stars characterize the aggregate review position, or the level of evaluation supporting the combination germline classification for this VCV file.
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