Examine This Report on link thr777
Examine This Report on link thr777
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Comment: This sequence adjust affects codon 777 on the GAA mRNA. It's really a 'silent' change, this means that it doesn't alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, and that is A part of the consensus splice internet site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented within the literature in men and women impacted with GAA-similar situations.
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Stars represent the mixture assessment position, or the level of evaluate supporting the mixture germline classification for this VCV record.
Aberrant 5' splice internet sites in human illness genes: mutation sample, nucleotide composition and comparison of computational equipment that forecast their utilization.
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