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This sequence alter affects codon 777 of the GAA mRNA. This is a 'silent' improve, this means that it doesn't change the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Portion of the consensus splice web page for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been reported within the literature in people today afflicted with GAA-connected conditions.

Aberrant 5' splice websites in human disorder genes: mutation sample, nucleotide composition and comparison of computational tools that forecast their utilization.

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There is absolutely no useful proof in ClinVar for this variation. If you have generated purposeful details for this variation, be sure to contemplate submitting that knowledge to ClinVar.

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So this day may be diverse in the day with the “most up-to-date submission” claimed at the highest of the web page. Assistance Adhere to NCBI

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The influence on the variant on RNA or protein function, based upon experimental proof from submitters.

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