The outcome from the variant on RNA or protein functionality, according to experimental proof from submitters.

This price is calculated by NCBI based upon facts from submitters. Examine our procedures for calculating the critique standing. The volume of submissions which lead to this review standing is proven in parentheses.

This date represents the last time this VCV file was up-to-date. The update might be as a consequence of an update to one of many provided submitted data (SCVs), or due to an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs number.

The worldwide slight allele frequency calculated through the 1000 Genomes Project. The minimal allele at this spot is indicated in parentheses and should be different through the allele represented by this VCV history.

The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of people observed using this variant.

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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.

The amount of variants in ClinVar which can be contained within this gene, which has a hyperlink to perspective the list of variants.

These citations are identified by LitVar using the rs selection, so they may involve citations for more than one variant at this spot. Please assessment the LitVar success carefully in your variant of curiosity. Record final up-to-date Could 19, 2024 

Aberrant five' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources thr777 that predict 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 have the gene.

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Stars characterize the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details with the submitter.