What Does slot thr777 Mean?
What Does slot thr777 Mean?
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence variations on RNA splicing advise that this variant may possibly develop or reinforce a splice site. In summary, the out there proof is at present inadequate to find out the function of the variant in condition. Thus, it has been categorised being a Variant of Uncertain Significance. (less)
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This day signifies the final time this VCV history was current. The update may be because of an update to one of many provided submitted information (SCVs), or on account of an update that ClinVar manufactured on the variant such as adding HGVS expressions or a rs selection.
The publishing Business for this submitted (SCV) file. This column also consists of the SCV accession and Model range, the date this SCV 1st appeared in ClinVar, as well as day that this SCV was last updated in ClinVar.
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The worldwide minimal allele frequency calculated because of the one thousand Genomes Task. The slight allele at this spot is indicated in parentheses and will be distinct from your allele represented by this VCV document.
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