What Does slot thr777 Mean?
What Does slot thr777 Mean?
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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 frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the result of sequence improvements on RNA splicing recommend this variant may well produce or improve a splice web site. In summary, the available proof is at present inadequate to determine the function of the variant in disease. Consequently, it's been categorised to be a Variant of Uncertain Importance. (considerably less)
This day represents the last time this VCV document was up to date. The update may be due to an update to on the list of involved submitted documents (SCVs), or on account of an update that ClinVar produced to your variant for instance introducing HGVS expressions or maybe a rs number.
This sequence adjust influences codon 777 in the GAA mRNA. It's a 'silent' alter, meaning that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice web-site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been reported from the literature in men and women affected with GAA-similar ailments.
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This value is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the evaluation status. The amount of submissions which contribute to this evaluation status is proven in parentheses.
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These citations are determined by LitVar using the rs quantity, so They might include things like citations for multiple variant at this area. Make sure you assessment the LitVar outcomes carefully to your variant of curiosity. Report past up to date May possibly 12, 2024
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