The amount of variants in ClinVar which might be contained in just this gene, with a link to check out the listing of variants.
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The amount of variants in ClinVar which might be contained within just this gene, with a link to view the list of variants.
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The impact of your variant on RNA or protein perform, determined by experimental proof from submitters.
The result in the variant on RNA or protein perform, depending on experimental proof from submitters.
This sequence change has an effect on codon 777 on the GAA mRNA. This is a 'silent' adjust, that means link alternatif thr777 that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, which 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 claimed from the literature in men and women impacted with GAA-related ailments.
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