Top Guidelines Of thr777
Top Guidelines Of thr777
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the outcome of sequence modifications on RNA splicing advise that this variant may develop or strengthen a splice website. In summary, the obtainable evidence is now inadequate to find out the part of this variant in disease. Consequently, it's been labeled to be a Variant of Uncertain Significance. (fewer)
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This date represents the last time this VCV file was up-to-date. The update may very well be due to an update to one of several bundled submitted records (SCVs), or as a result of an update that ClinVar manufactured to your variant which include adding HGVS expressions or perhaps a rs amount.
The publishing Business for this submitted (SCV) document. This column also contains the SCV accession and Variation number, the date this SCV very first appeared in ClinVar, and the day this SCV was previous up to date in ClinVar.
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