thr777 Fundamentals Explained

thr777 Fundamentals Explained

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This sequence change has an effect on codon 777 on the GAA mRNA. It's a 'silent' change, indicating that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be part of the consensus splice web-site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported from the literature in folks afflicted with GAA-connected disorders.

Aberrant 5' splice web sites in human illness genes: mutation pattern, nucleotide composition and comparison of computational instruments that predict their utilization.

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There's no useful proof in ClinVar for this variation. If you have created purposeful data for this variation, make sure you take into account distributing that facts to ClinVar.

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The amount of variants in ClinVar for this gene, like smaller sized variants throughout the gene and bigger CNVs that overlap or completely have the gene.

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