Examine This Report on link thr777
Examine This Report on link thr777
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Comment: This sequence alter has an effect on codon 777 with the GAA mRNA. It is a 'silent' improve, indicating that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is A part of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in people today influenced with GAA-associated conditions.
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The problem with the classification, supplied by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of people observed using this type of variant.
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So this day could possibly be unique within the day on the “most up-to-date submission” noted at the top of the web site. Assistance Observe NCBI
The global minimal allele frequency calculated from the one thousand Genomes Job. The minor allele at this spot is indicated in parentheses and should be distinctive from your allele represented by this VCV report.
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This column slot thr777 features more information supporting the classification, together with citations, the touch upon classification, and thorough proof supplied as observations of your variant with the submitter.
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