The result in the variant on RNA or protein function, determined by experimental evidence from submitters.

This value is calculated by NCBI depending on knowledge from submitters. Examine our regulations for calculating the evaluate position. The amount of submissions which lead to this critique status is proven in parentheses.

There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful data for this variation, please consider publishing that details to ClinVar.

The worldwide slight allele frequency calculated with the one thousand Genomes Venture. The insignificant allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV document.

The situation with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the affected standing and allele origin of people noticed with this particular variant.

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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to look at distributing that details to ClinVar.

The amount of variants in ClinVar which are contained within this gene, which thr777 has a url to check out the listing of variants.

These citations are identified by LitVar utilizing the rs selection, so They might involve citations for more than one variant at this spot. Please overview the LitVar results meticulously for your variant of curiosity. Report past updated May possibly 19, 2024 

Aberrant 5' splice web sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational applications 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 absolutely comprise the gene.

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Stars symbolize the assessment status, or the extent of critique supporting the submitted (SCV) file. This price is calculated by NCBI based upon facts with the submitter.