The influence on the variant on RNA or protein perform, according to experimental proof from submitters.
This price is calculated by NCBI determined by info from submitters. Read our procedures for calculating the evaluate standing. The number of submissions which add to this critique standing is shown in parentheses.
This date represents the final time this VCV report was updated. The update may very well be resulting from an update to among the involved submitted documents (SCVs), or due to an update that ClinVar created on the variant which include introducing HGVS expressions or a rs quantity.
The worldwide minimal allele frequency calculated with the one thousand Genomes Venture. The minor allele at this locale is indicated in parentheses and should be distinctive from your allele represented by this VCV history.
The problem with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the afflicted status and allele origin of people noticed with this particular variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, remember to consider distributing that data to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a link to perspective the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for more thr777 than one variant at this locale. Make sure you evaluate the LitVar outcomes meticulously for the variant of desire. File last up to date May well 19, 2024
Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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Stars symbolize the assessment position, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI determined by knowledge from your submitter.