Top thr777 Secrets
Top thr777 Secrets
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The amount of variants in ClinVar which are contained within just this gene, using a connection to check out the listing of variants.
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This benefit is calculated by NCBI determined by information from submitters. Read through our guidelines for calculating the overview status. The quantity of submissions which add to this assessment position is proven in parentheses.
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These citations are determined by LitVar using the rs range, so they may include things like citations for more than one variant at this area. Be sure to evaluate the LitVar benefits carefully to your variant of fascination. File past up to date Could 19, 2024
03%). This variant has not been noted in the literature in individuals afflicted with GAA-linked ailments. ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the result of sequence adjustments on RNA splicing propose that this variant may possibly create or reinforce a splice web site. In summary, the accessible evidence is at this time inadequate to find out the part of this variant in disorder. As a result, it's been classified like a Variant of Uncertain Importance. OK
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The influence from the variant on RNA or protein purpose, based on experimental evidence from submitters.
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