login thr777 - An Overview
login thr777 - An Overview
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Comment: This sequence change has an effect on codon 777 from the GAA mRNA. It's really a 'silent' transform, that means that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be part of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been described inside the literature in individuals influenced with GAA-related problems.
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So this day could possibly be distinct from your date in the “most recent submission” claimed at the highest of this web site. Support Stick to NCBI
These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this locale. Remember to evaluate the LitVar final results very carefully for your personal variant of curiosity. File past up to date May well 19, 2024
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The distributing Firm for this submitted (SCV) file. This column also contains the SCV accession and Edition quantity, the day this SCV to start with appeared in ClinVar, as well as day that this SCV was last current in ClinVar.
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This day represents the last time this VCV document was updated. The update could be on account of an update to among the list of bundled submitted documents (SCVs), or due to an update that ClinVar built into the variant which include introducing HGVS expressions or a rs selection.
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There won't be any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, be sure to take into account submitting that details to ClinVar.
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