Little Known Facts About thr777.
Little Known Facts About thr777.
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The effect of your variant on RNA or protein purpose, based on experimental proof from submitters.
This sequence modify influences codon 777 in the GAA mRNA. It is a 'silent' improve, which means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be part of the consensus splice web page for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people impacted with GAA-linked circumstances.
This day signifies the last time this VCV file was up to date. The update might be as a consequence of an update to one of several incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for example incorporating HGVS expressions or simply a rs number.
The worldwide small allele frequency calculated with the one thousand Genomes Job. The minimal allele at this site is indicated in parentheses and will be diverse through the allele represented by this VCV file.
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The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as inside the ACMG/AMP guidelines, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the combination classification.
Study our procedures for calculating the thr777 review position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection technique.
The number of variants in ClinVar which have been contained within just this gene, by using a hyperlink to watch the list of variants.
These citations are identified by LitVar using the rs selection, so they may involve citations for multiple variant at this area. Be sure to assessment the LitVar effects cautiously in your variant of interest. Document very last updated Could 19, 2024
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Stars characterize the critique standing, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details with the submitter.