thr777 Fundamentals Explained
thr777 Fundamentals Explained
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The result in the variant on RNA or protein purpose, based on experimental evidence from submitters.
This worth is calculated by NCBI based upon data from submitters. Study our policies for calculating the evaluate position. The number of submissions which contribute to this evaluation position is proven in parentheses.
There is absolutely no practical evidence in ClinVar for this variation. Should you have produced useful knowledge for this variation, remember to look at distributing that info to ClinVar.
The global slight allele frequency calculated with the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should 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 influenced position and allele origin of people 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 consider publishing that information to ClinVar.
The amount of variants in ClinVar that happen to be contained inside this gene, which has a website link to look at the list of variants.
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Aberrant 5' splice web sites in human illness genes: mutation sample, nucleotide framework and comparison of computational thr777 resources that forecast their utilization.
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The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or entirely include the gene.
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