5 Essential Elements For thr777
5 Essential Elements For thr777
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The outcome of your variant on RNA or protein purpose, based on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Browse our procedures for calculating the critique status. The volume of submissions which add to this assessment position is demonstrated in parentheses.
This day signifies the final time this VCV record was up to date. The update can be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant such as introducing HGVS expressions or simply a rs quantity.
The worldwide slight allele frequency calculated through the 1000 Genomes Challenge. The small allele at this place is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
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The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This value is calculated by NCBI determined by knowledge from submitters. Examine our procedures for calculating the combination classification.
Read through our policies for calculating the overview status. This column also features a backlink on the submitter’s assertion requirements if supplied, and the gathering strategy.
The amount of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.
These citations are identified by LitVar using the rs range, so they may include things like citations for more than one variant at this spot. Please assessment the LitVar success very carefully for your personal variant of interest. File past updated Could 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
Stars symbolize the aggregate evaluate standing, or the level of critique supporting the combination germline classification for this VCV report.
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The location is secure. The https:// ensures that you'll be connecting to your official Web-site and that any info you deliver is encrypted and transmitted securely.