thr777 Fundamentals Explained
thr777 Fundamentals Explained
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence variations on RNA splicing advise that this variant might create or fortify a splice web-site. In summary, the readily available proof is at this time insufficient to ascertain the position of this variant in sickness. Thus, it has been categorised like a Variant of Unsure Importance. (considerably less)
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This sequence alter influences codon 777 on the GAA mRNA. It's a 'silent' transform, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Element of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in men and women impacted with GAA-similar ailments.
This column incorporates more information supporting the classification, together with citations, the touch upon classification, and detailed proof presented as observations in the variant via the submitter.
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These citations are identified by LitVar using the rs quantity, so they may consist of citations for more than one variant at this place. Remember to overview the LitVar benefits thoroughly in your variant of fascination. File previous up to date Could 19, 2024
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The impact on the variant on RNA or protein purpose, depending on experimental proof from submitters.
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