ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the outcome of sequence changes on RNA splicing advise that this variant may build or fortify a splice web-site. In summary, the readily available proof is at this time insufficient to ascertain the function of the variant in disease. Consequently, it's been categorized as a Variant of Uncertain Significance.

This worth is calculated by NCBI based on information from submitters. Examine our regulations for calculating the evaluation position. The volume of submissions which lead to this review standing is proven in parentheses.

There is not any practical evidence in ClinVar for this variation. When you've got created purposeful facts for this variation, be sure to take into consideration publishing that facts to ClinVar.

The worldwide minimal allele frequency calculated with the one thousand Genomes Undertaking. The slight allele at this site is indicated in parentheses and should be diverse from the allele represented by this VCV report.

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Examine our regulations for calculating the critique standing. This column also includes a link to your submitter’s assertion conditions if delivered, and the gathering technique.

The volume of variants in ClinVar which might be contained inside of this gene, having a url to check out the listing of variants.

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Aberrant five' splice internet sites in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.

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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or entirely contain the gene.

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Stars symbolize the assessment status, or the extent of critique supporting thr777 the submitted (SCV) report. This worth is calculated by NCBI determined by info from your submitter.