The influence from the variant on RNA or protein purpose, determined by experimental evidence from submitters.
This sequence modify influences codon 777 of the GAA mRNA. It's a 'silent' modify, indicating that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice web page for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-connected disorders.
This day represents the final time this VCV file was up to date. The update may be resulting from an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced on the variant for instance introducing HGVS expressions or simply a rs number.
The global insignificant allele frequency calculated via the one thousand Genomes Task. The small allele at this place is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
The situation for that classification, provided by the submitter for this submitted (SCV) history. This column also involves the affected standing and allele origin of people noticed with this particular variant.
The mixture germline classification for this variant, ordinarily for your monogenic or Mendelian disorder as within the ACMG/AMP recommendations, or for response to a drug. This worth is calculated by NCBI based on information from submitters. Go through our policies for calculating the mixture classification.
Read through our policies for calculating the overview status. This column also features a backlink into the submitter’s assertion standards if supplied, and the gathering strategy.
The submitting Corporation for this submitted (SCV) file. This column also consists of the SCV accession and Variation amount, the day this SCV initial appeared in ClinVar, and the date this SCV was last up-to-date in ClinVar.
These citations are identified by LitVar using the rs selection, so they may involve citations for more than one variant at this spot. Please overview the LitVar success meticulously for your personal variant of interest. History last updated May perhaps 19, 2024
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Stars symbolize the evaluate standing, or the level of critique supporting the submitted (SCV) file. This benefit is calculated by NCBI dependant on information in the submitter.