slot thr777 Things To Know Before You Buy
slot thr777 Things To Know Before You Buy
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ClinVar includes 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 designed to predict the result of sequence alterations on RNA splicing advise this variant may well create or fortify a splice web-site. In summary, the available proof is currently inadequate to determine the function of the variant in sickness. Consequently, it's been labeled like a Variant of Unsure Significance. (fewer)
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Stars represent the combination assessment status, or the level of evaluate supporting the combination germline classification for this VCV document.
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The amount of variants in ClinVar for this gene, such as smaller variants in the gene and larger CNVs that overlap or absolutely consist of the gene.
The result on the variant on RNA or protein operate, determined by experimental evidence from submitters.
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