ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the result of sequence changes on RNA splicing suggest this variant could develop or strengthen a splice web page. In summary, the out there proof is now inadequate to find out the job of the variant in condition. Therefore, it's been labeled as being a Variant of Uncertain Significance. (a lot less)

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The volume of variants in ClinVar which can be contained in just this gene, using a backlink to see the list of variants.

Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.

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There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, you should consider distributing that information to ClinVar.

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The influence from the variant on RNA or protein purpose, depending on experimental proof from submitters.

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Stars depict the assessment status, or the extent of overview supporting the submitted (SCV) document. This value is calculated by NCBI dependant on knowledge within the submitter.

The worldwide minor allele frequency calculated from the 1000 Genomes Undertaking. The slight allele at this spot is indicated in parentheses and may be various from your allele represented by this VCV document.

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