Little Known Facts About slot thr777.
Little Known Facts About slot thr777.
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Comment: This sequence alter has an effect on codon 777 with the GAA mRNA. This is a 'silent' alter, this means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's A part of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in individuals affected with GAA-linked situations.
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The quantity of variants in ClinVar for this gene, such as smaller sized variants throughout the gene and bigger CNVs that overlap or entirely have the gene.
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This column includes more details supporting the classification, which include citations, the touch upon classification, and in depth evidence furnished as observations of the variant through the submitter.
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