Fascination About login thr777
Fascination About login thr777
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This sequence adjust influences codon 777 of your GAA mRNA. It is just a 'silent' modify, meaning that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Portion of the consensus splice website for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in people impacted with GAA-linked situations.
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide construction and comparison of computational resources that forecast their utilization.
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These citations are recognized by LitVar using the rs amount, so they may contain citations for more than one variant at this place. Please assessment the LitVar final results very carefully for your personal variant of desire. Report very last up to date Could 19, 2024
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Stars symbolize the aggregate assessment status, or the level of evaluation supporting the mixture germline classification for this VCV history.
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