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There is not any practical proof in ClinVar for this variation. Should you have created practical details for this variation, please look at publishing that facts to ClinVar.
The publishing Firm for this submitted (SCV) file. This column also involves the SCV accession and Model variety, the date this SCV initial appeared in ClinVar, and the day this SCV was final updated in ClinVar.
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The quantity of variants in ClinVar for this gene, like smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly contain the gene.
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This sequence improve has thr777 an effect on codon 777 of your GAA mRNA. It's really a 'silent' improve, this means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Portion of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been described from the literature in persons influenced with GAA-connected circumstances.
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