THE 5-SECOND TRICK FOR SLOT THR777

The 5-Second Trick For slot thr777

The 5-Second Trick For slot thr777

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Comment: This sequence change has an effect on codon 777 in the GAA mRNA. It's really a 'silent' alter, indicating that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Component of the consensus splice website for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in people influenced with GAA-similar problems.

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Browse our rules for calculating the review status. This column also features a link to your submitter’s assertion conditions if delivered, and the collection system.

ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively typical reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the outcome of sequence changes on RNA splicing recommend that this variant may build or fortify a splice internet site. In summary, the out there proof is at this time inadequate to determine the role of this variant in sickness. As a result, it has been categorised like a Variant of Unsure Importance. OK

These citations are determined by LitVar using the rs number, so they may involve citations for multiple variant at this place. You should evaluation the LitVar outcomes carefully for your variant of desire. File last up to date May well 19, 2024 

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This sequence modify influences codon 777 of your GAA mRNA. It is a 'silent' modify, 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 sixteen, and that is Element of the consensus splice web site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed within the literature in men and women afflicted with GAA-associated problems.

This worth is calculated by NCBI based on facts from submitters. Examine our principles for calculating the review position. The quantity of submissions which contribute to this evaluate standing is demonstrated in parentheses.

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