New Step by Step Map For thr777
New Step by Step Map For thr777
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The impact of your variant on RNA or protein perform, based upon experimental proof from submitters.
This value is calculated by NCBI dependant on details from submitters. Go through our guidelines for calculating the evaluate status. The amount of submissions which lead to this overview standing is shown in parentheses.
There isn't any functional evidence in ClinVar for this variation. In case you have created purposeful facts for this variation, make sure you look at distributing that data to ClinVar.
The global small allele frequency calculated with the one thousand Genomes Challenge. The minor allele at this locale is indicated in parentheses and should be diverse in the allele represented by this VCV history.
The situation for that classification, furnished by the submitter for this submitted (SCV) document. This column also involves the afflicted position and allele origin of people observed with this variant.
The combination germline classification for this variant, ordinarily for any monogenic or Mendelian disorder as within the ACMG/AMP rules, or for response to the drug. This value is calculated by NCBI based upon info from submitters. Read through our procedures for calculating the combination classification.
Read our guidelines for calculating the overview position. This column also features a link into the submitter’s assertion criteria if provided, and the gathering strategy.
The number of variants in ClinVar which are contained within just this gene, having a website link to check out the list of variants.
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Stars stand for the combination review standing, or the level of evaluation supporting the aggregate germline classification for this VCV record.
The amount of variants in ClinVar for this gene, which include scaled-down variants throughout the gene and bigger CNVs that overlap or completely consist of the gene.
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Stars represent the overview position, or the extent of overview supporting the submitted (SCV) record. This worth is calculated by thr777 NCBI based on info within the submitter.