How thr777 can Save You Time, Stress, and Money.
How thr777 can Save You Time, Stress, and Money.
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the effect of sequence changes on RNA splicing recommend this variant may possibly make or strengthen a splice site. In summary, the readily available evidence is at the moment insufficient to ascertain the role of the variant in sickness. As a result, it's been labeled like a Variant of Uncertain Significance. (significantly less)
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This price is calculated by NCBI according to details from submitters. Go through our policies for calculating the assessment status. The volume of submissions which contribute to this review standing is shown in parentheses.
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The outcome on the variant on RNA or protein function, based on experimental proof from submitters.
The number of variants in ClinVar that are contained in just this gene, by using a hyperlink to watch the listing of variants.
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