5 Simple Statements About login thr777 Explained
5 Simple Statements About login thr777 Explained
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Comment: This sequence change influences codon 777 in the GAA mRNA. It's a 'silent' alter, meaning that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be part of the consensus splice website for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported during the literature in men and women impacted with GAA-similar situations.
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This column consists of additional information supporting the classification, like citations, the touch upon classification, and comprehensive evidence delivered as observations from the variant through the submitter.
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The impact of your variant on RNA or protein operate, based on experimental proof from submitters.
There aren't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, you should look at distributing that info to ClinVar.
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This value is calculated by NCBI based upon information from submitters. Examine our guidelines for calculating the critique position. The amount of submissions which lead to this evaluate status is proven in parentheses.