The effect of your variant on RNA or protein perform, determined by experimental evidence from submitters.
This worth is calculated by NCBI based on data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this review standing is shown in parentheses.
There is not any purposeful proof in ClinVar for this variation. When you've got created practical details for this variation, please consider publishing that details to ClinVar.
The worldwide slight allele frequency calculated with the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and should be diverse from your allele represented by this VCV record.
The situation to the classification, furnished by the submitter for this submitted (SCV) history. This column also incorporates the impacted status and allele origin of people noticed with this variant.
The combination germline classification for this variant, generally for just a monogenic or Mendelian ailment as while in the ACMG/AMP rules, or for reaction to a drug. This value is calculated by NCBI depending on information from submitters. Go through our policies for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The amount of variants in ClinVar which have been contained within just this gene, using a link to perspective the list of variants.
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Aberrant five' splice sites in human disease genes: mutation sample, nucleotide composition and comparison of computational instruments that predict their utilization.
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The amount of variants in ClinVar for this gene, such as lesser variants inside the gene and larger thr777 CNVs that overlap or thoroughly contain the gene.
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Stars depict the critique status, or the extent of assessment supporting the submitted (SCV) history. This price is calculated by NCBI dependant on details within the submitter.