The best Side of thr777
The best Side of thr777
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence alterations on RNA splicing advise this variant could develop or reinforce a splice site. In summary, the out there evidence is now insufficient to ascertain the position of this variant in condition. Therefore, it's been categorised being a Variant of Uncertain Significance. (a lot less)
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This price is calculated by NCBI according to information from submitters. Examine our regulations for calculating the assessment position. The number of submissions which lead to this evaluate status is shown in parentheses.
The number of variants in ClinVar for this gene, which include smaller sized variants in the gene and larger CNVs that overlap or absolutely contain the gene.
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The ailment for the classification, provided by the submitter for this submitted (SCV) document. This column also involves the influenced status and allele origin of people observed with this variant.
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The worldwide insignificant allele frequency calculated via the a thousand Genomes Job. The minimal allele at this site is indicated in parentheses and should be diverse through the allele represented by this VCV file.
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