Everything about login thr777
Everything about login thr777
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This worth is calculated by NCBI depending on knowledge from submitters. Read through our rules for calculating the critique standing. The number of submissions which contribute to this assessment position is demonstrated in parentheses.
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The amount of variants in ClinVar for this gene, together with smaller variants within the gene and bigger CNVs that overlap or absolutely comprise the gene.
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This sequence transform affects codon 777 in the GAA mRNA. It is just a 'silent' change, that means that it doesn't change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, that is Portion of the consensus splice website for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described while in the literature in men and women impacted with GAA-associated conditions.
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