The volume of variants in ClinVar which are contained inside of this gene, by using a link to perspective the list of variants.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence variations on RNA splicing suggest this variant may well develop or reinforce a splice site. In summary, the out there proof is at present inadequate to ascertain the purpose of this variant in ailment. As a result, it has been classified being a Variant of Unsure Importance. (considerably less)
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Aberrant five' splice web pages in human disease genes: mutation pattern, nucleotide construction and comparison of computational applications that forecast their utilization.
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This sequence change has an effect on codon 777 of the GAA mRNA. This is a 'silent' transform, indicating that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice internet site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while slot thr777 in the literature in people today affected with GAA-associated ailments.
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