slot thr777 No Further a Mystery
slot thr777 No Further a Mystery
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the result of sequence adjustments on RNA splicing recommend this variant may well build or bolster a splice website. In summary, the available proof is at present insufficient to ascertain the position of this variant in sickness. Thus, it has been labeled like a Variant of Uncertain Significance. (a lot less)
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This sequence adjust affects codon 777 of your GAA mRNA. It is just a 'silent' modify, that means that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in persons afflicted with GAA-connected disorders.
Stars depict the assessment status, or the extent of evaluate supporting the submitted (SCV) file. This value is calculated by NCBI based on facts from your submitter.
This benefit is calculated by NCBI based upon facts from submitters. Go through our regulations for calculating the evaluation position. The number of submissions which lead to this critique status is proven in parentheses.
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So this date may very well be distinctive with the date with the “most recent submission” documented at the very best of the web page. Enable Abide by NCBI
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