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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the impact of sequence modifications on RNA splicing propose this variant may well create or fortify a splice site. In summary, the obtainable proof is presently inadequate to find out the position of the variant in illness. As a result, it has been categorized to be a Variant of Unsure Importance. (much less)
This day signifies the final time this VCV report was up to date. The update may be resulting from an update to one of several integrated submitted information (SCVs), or as a consequence of an update that ClinVar produced on the variant which include adding HGVS expressions or maybe a rs quantity.
The quantity of variants in ClinVar which are contained within just this gene, having a url to view the list of variants.
Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide structure and comparison of computational applications that forecast their utilization.
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence adjustments on RNA splicing counsel that this variant may possibly build or fortify a splice web page. In summary, the obtainable evidence is at this time inadequate to find out the position of this variant in disorder. Thus, it has been categorized as being a Variant of Unsure Importance. OK
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The worldwide minimal allele frequency calculated because of the one thousand Genomes Project. The insignificant allele at this locale is indicated in parentheses and could be unique with the allele represented by this VCV file.
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The result of your variant on RNA or protein functionality, based upon experimental evidence from submitters.
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