Remark: This sequence adjust impacts codon 777 of your GAA mRNA. It is just a 'silent' transform, meaning that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be A part of the consensus splice internet site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented inside the literature in individuals affected with GAA-related disorders.

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This column incorporates more info supporting the classification, together with citations, the comment on classification, and specific evidence delivered as observations in the variant by the submitter.

The problem for the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the impacted position and allele origin of individuals noticed using this variant.

The volume of variants in ClinVar which have been contained inside of this gene, that has a link to perspective the listing of variants.

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