ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence adjustments on RNA splicing advise this variant might develop or bolster a splice web site. In summary, the offered evidence is currently inadequate to ascertain the job of the variant in ailment. Hence, it's been classified as being a Variant of Uncertain Importance. (fewer)

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The amount of variants in ClinVar for this gene, such as smaller variants inside the gene and bigger CNVs that overlap or fully incorporate the gene.

This worth is calculated by NCBI based upon info from submitters. Read our rules for calculating the evaluation position. The quantity of submissions which contribute to this assessment position is shown in parentheses.

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The situation for the classification, furnished by the submitter for this submitted (SCV) report. This column also incorporates the impacted position and allele origin of individuals observed using this type of variant.

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So this date can be distinctive in the date with the “most up-to-date submission” reported at the highest of this web site. Enable Adhere to NCBI

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The global small allele frequency calculated with the a thousand Genomes Project. The insignificant allele at this area is indicated in parentheses and should be different from your allele represented by this VCV history.

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