Little Known Facts About link thr777.
Little Known Facts About link thr777.
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Remark: This sequence change affects codon 777 from the GAA mRNA. It is a 'silent' change, this means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Element 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 documented during the literature in folks influenced with GAA-relevant circumstances.
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence changes on RNA splicing counsel that this variant may perhaps produce or fortify a splice internet site. In summary, the obtainable proof is at present inadequate to determine the job of the variant in disease. As a result, it's been labeled like a Variant of Unsure Significance. (a lot less)
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These citations are recognized by LitVar utilizing the rs amount, so They could involve citations for multiple variant at this area. Please evaluate the LitVar outcomes meticulously for your variant of curiosity. Document last current May possibly 19, 2024
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This column consists of additional information supporting the classification, such as citations, the comment on classification, and specific proof supplied as observations on the variant via the submitter.
This column incorporates more info supporting the classification, such as citations, the comment on classification, and specific evidence delivered as observations of the variant through the submitter.
The situation link thr777 for that classification, supplied by the submitter for this submitted (SCV) report. This column also includes the impacted standing and allele origin of people noticed using this type of variant.
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This day represents the last time this VCV report was updated. The update could possibly be due to an update to one of several included submitted records (SCVs), or on account of an update that ClinVar made towards the variant for instance introducing HGVS expressions or perhaps a rs variety.
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The influence on the variant on RNA or protein operate, determined by experimental evidence from submitters.
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