Details, Fiction and login thr777
Details, Fiction and login thr777
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This sequence modify affects codon 777 of your GAA mRNA. It's a 'silent' modify, which means that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, which can be A part of the consensus splice website for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in men and women affected with GAA-relevant circumstances.
The distributing Firm for this submitted (SCV) file. This column also incorporates the SCV accession and Model variety, the date this SCV very first appeared in ClinVar, as well as the date this SCV was past current in ClinVar.
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Stars depict the aggregate critique status, or the level of evaluate supporting the mixture germline classification for this VCV record.
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The global minimal allele frequency calculated from the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be unique with the allele represented by this VCV report.
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