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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence variations on RNA splicing advise this variant may generate or fortify a splice web-site. In summary, the offered evidence is currently inadequate to determine the role of this variant in sickness. Thus, it has been categorised being a Variant of Uncertain Importance. (much less)
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The number of variants in ClinVar that happen to be contained inside this gene, that has a hyperlink to watch the listing of variants.
This column includes more info supporting the classification, which include citations, the comment on classification, and comprehensive evidence offered as observations on the variant with the submitter.
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Stars characterize the mixture review standing, or the level of critique supporting the aggregate germline classification for this VCV history.
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence adjustments on RNA splicing propose that this variant might develop or strengthen a splice website. In summary, the obtainable evidence is currently inadequate to ascertain the purpose of this variant in condition. As a result, it has been categorised for a Variant of Unsure Significance. Alright
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The amount of variants in ClinVar that are contained in this gene, having a backlink to view the list of variants.
The worldwide insignificant allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and could be different within the allele represented by this VCV history.
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