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 lead to this evaluation position is proven in parentheses.
There is no functional proof in ClinVar for this variation. When you've got created useful facts for this variation, please take into consideration publishing that details to ClinVar.
This column incorporates more details supporting the classification, such as citations, the touch upon classification, and thorough evidence delivered as observations with the variant through the submitter.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of people observed using this type of variant.
The mixture germline classification for this variant, ordinarily for your monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to a drug. This value is calculated by NCBI according to info from submitters. Read through our regulations for calculating the mixture classification.
There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that details to ClinVar.
The number of variants in ClinVar which might be contained in this gene, using a link to perspective the list of variants.
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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide composition and comparison of computational applications that predict their utilization.
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The quantity of variants in ClinVar for this gene, such as scaled-down variants inside the gene and bigger CNVs that overlap or absolutely have the gene.
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