thr777 Fundamentals Explained
thr777 Fundamentals Explained
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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 comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence improvements on RNA splicing counsel this variant may well build or improve a splice internet site. In summary, the obtainable proof is at present inadequate to find out the function of this variant in sickness. Thus, it has been categorised for a Variant of Unsure Significance. (much less)
So this date could possibly be unique with the date from the “most recent submission” reported at the best of this web page. Help Observe NCBI
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Stars characterize the mixture review position, or the level of evaluate supporting the mixture germline classification for this VCV record.
The aggregate germline classification for this variant, generally for a monogenic or Mendelian dysfunction as in the ACMG/AMP tips, or for reaction to some drug. This price is calculated by NCBI dependant on info from link thr777 submitters. Examine our rules for calculating the mixture classification.
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The ailment for the classification, supplied by the submitter for this submitted (SCV) report. This column also includes the affected position and allele origin of people observed with this particular variant.
The volume of variants in ClinVar that are contained inside this gene, using a link to look at the listing of variants.
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