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This sequence transform impacts codon 777 from the GAA mRNA. It's really a 'silent' transform, which means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Portion of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been described inside the literature in people today impacted with GAA-similar situations.
The number of variants in ClinVar for this gene, together with scaled-down variants in the gene and larger CNVs that overlap or fully consist of the gene.
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The submitting Group for this submitted (SCV) report. This column also consists of the SCV accession and version quantity, the date this SCV to start with appeared in ClinVar, and the date this SCV was very last up to date in ClinVar.
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The result of your variant on RNA or protein perform, dependant on experimental evidence from submitters.
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