The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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The impact from the variant on RNA or protein functionality, determined by experimental evidence from submitters.
This sequence alter impacts codon 777 with the GAA mRNA. It's really a 'silent' transform, this means that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which can be Portion of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in individuals affected with GAA-related conditions.
There isn't a useful evidence in ClinVar for this variation. When you've got produced practical information for this variation, remember to take into account submitting that info to ClinVar.
The global minor allele frequency calculated via the 1000 Genomes Venture. The minimal allele at this locale is indicated in parentheses and should be distinct from your allele represented by this VCV document.
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The combination germline classification for this variant, typically for any monogenic or Mendelian dysfunction as within the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI based on facts from submitters. Examine our guidelines for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this thr777 variation, make sure you contemplate distributing that data to ClinVar.
The distributing Corporation for this submitted (SCV) file. This column also features the SCV accession and Model variety, the day this SCV very first appeared in ClinVar, and the date this SCV was final up-to-date in ClinVar.
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Stars depict the aggregate review position, or the level of evaluate supporting the mixture germline classification for this VCV history.
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