Facts About link thr777 Revealed
Facts About link thr777 Revealed
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Remark: This sequence transform influences codon 777 of the GAA mRNA. It is just a 'silent' alter, that means that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is Section of the consensus splice web site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in people today afflicted with GAA-relevant situations.
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So this date could be various from the date on the “most up-to-date submission” noted at the top of the website page. Assistance Adhere to NCBI
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These citations are discovered by LitVar utilizing the rs number, so they may contain citations for more than one variant at this spot. Make sure you overview the LitVar effects diligently for your variant of desire. History last updated May twelve, 2024
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This column includes more details supporting the classification, together with citations, the touch upon classification, and comprehensive evidence furnished as observations of thr777 the variant through the submitter.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the impacted position and allele origin of individuals noticed using this variant.
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