The problem to the classification, supplied by the submitter for this submitted (SCV) report. This column also features the affected standing and allele origin of people observed with this particular variant.

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This sequence transform impacts codon 777 from the GAA mRNA. It's really a 'silent' transform, that means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Component of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in men and women affected with GAA-linked circumstances.

This column includes more info supporting the classification, together with citations, the touch upon classification, and specific proof supplied as observations on the variant via the submitter.

For those who click on username, you may modify your username. Conversely, on clicking within the password connection you can reset your password.

Stars depict the aggregate evaluate standing, or the extent of overview supporting the aggregate germline classification for this VCV report.

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