Everything about login thr777
Everything about login thr777
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Remark: This sequence change influences codon 777 on the GAA mRNA. This is a 'silent' alter, meaning that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be part of the consensus splice web page for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported from the literature in people affected with GAA-linked circumstances.
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So this day can be diverse through the date in the “most recent submission” described at the very best of this site. Support Adhere to NCBI
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this place. You should evaluation the LitVar effects thoroughly for the variant of fascination. Report last up to date May well 19, 2024
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This date represents the last time this VCV history was updated. The update could possibly be as a consequence of an update to one of many involved submitted records (SCVs), or as a result of an update that ClinVar designed to the variant which include introducing HGVS thr777 expressions or perhaps a rs variety.
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There won't be any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you consider publishing that facts to ClinVar.
The global small allele frequency calculated because of the a thousand Genomes Undertaking. The minimal allele at this locale is indicated in parentheses and may be distinct through the allele represented by this VCV report.
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