The result in the variant on RNA or protein perform, depending on experimental evidence from submitters.
This benefit is calculated by NCBI determined by info from submitters. Study our rules for calculating the evaluate standing. The number of submissions which add to this assessment position is proven in parentheses.
There is not any purposeful proof in ClinVar for this variation. When you've got created useful knowledge for this variation, you should look at distributing that knowledge to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be different within the allele represented by this VCV file.
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The combination germline classification for this variant, typically for any monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to a drug. This value is calculated by NCBI according to knowledge from submitters. Go through our procedures for calculating the combination classification.
Examine our regulations for calculating the overview standing. This column also features a connection to your submitter’s assertion requirements if offered, and the gathering process.
The volume of variants in ClinVar which have been contained inside this gene, by using a connection to look at the list of variants.
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Aberrant five' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The amount of variants in ClinVar for this gene, including more compact variants within the gene and larger CNVs that overlap or thoroughly have the gene.
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Stars signify the evaluation status, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI depending on information in the submitter.