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Stars stand for the overview status, or the level of evaluation supporting the submitted (SCV) document. This worth is calculated by NCBI based on info within the submitter.
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These citations are determined by LitVar utilizing the rs range, so They could involve citations for multiple variant at this location. Please evaluation the LitVar final results cautiously for the variant of interest. Record last updated May twelve, 2024
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The volume of variants in ClinVar for this gene, such as more compact variants inside the gene and bigger CNVs that overlap or absolutely consist of the gene.
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The influence on the variant on RNA or protein purpose, based upon experimental evidence from submitters.
This sequence adjust impacts codon 777 in the GAA mRNA. This is a 'silent' modify, 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 16, that is part of the consensus splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described while in the literature in men and women impacted with GAA-related problems.
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