login thr777 Secrets
login thr777 Secrets
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The situation for that classification, supplied by the submitter for this submitted (SCV) record. This column also includes the affected standing and allele origin of individuals observed using this variant.
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This sequence transform influences codon 777 on the GAA mRNA. This is a 'silent' transform, this means that it doesn't alter the encoded amino acid sequence of your GAA protein. This variant also falls at the final 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 claimed within the literature in men and women influenced with GAA-similar ailments.
Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
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Stars characterize the mixture evaluation position, or the level of evaluation supporting the combination germline classification for this VCV report.
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