The 5-Second Trick For link thr777
The 5-Second Trick For link thr777
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The number of variants in ClinVar which might be contained in just this gene, with a link to check out the list of variants.
Stars signify the critique standing, or the level of evaluation supporting the submitted (SCV) document. This worth is calculated by NCBI depending on data from the submitter.
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the outcome of sequence improvements on RNA splicing recommend this variant may perhaps produce or bolster a splice web site. In summary, the obtainable proof is at the moment insufficient to ascertain the part of the variant in ailment. Consequently, it has been classified to be a Variant of Uncertain Importance. Okay
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The global minimal allele frequency calculated from the one thousand Genomes Challenge. The small allele at this spot is indicated in parentheses and could be various through the allele represented by this VCV history.
This column features more information supporting the classification, like citations, the touch upon classification, and in-depth proof presented as observations in the variant via the submitter.
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This day signifies the last time this VCV document was updated. The update may be because of an update to one of many provided submitted information (SCVs), or as a result of an update that ClinVar created towards the variant like adding HGVS expressions or a rs number.
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This sequence transform has an effect on codon 777 with the GAA mRNA. It's really a 'silent' change, that means that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that is Section of the consensus splice website for this exon. This thr777 variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described while in the literature in folks affected with GAA-similar ailments.
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