Little Known Facts About thr777.
Little Known Facts About thr777.
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The effect of the variant on RNA or protein functionality, based on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Examine our policies for calculating the assessment position. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.
This day signifies the last time this VCV file was up-to-date. The update can be because of an update to among the list of integrated submitted information (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or simply a rs number.
The global minor allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.
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The aggregate germline classification for this variant, usually for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by knowledge from submitters. Examine our procedures for calculating the combination classification.
There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration thr777 distributing that data to ClinVar.
The submitting Corporation for this submitted (SCV) file. This column also consists of the SCV accession and Edition quantity, the day this SCV initial appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.
These citations are discovered by LitVar using the rs range, so they may include things like citations for multiple variant at this area. Be sure to evaluation the LitVar effects cautiously in your variant of desire. Document previous up-to-date May 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 stand for the mixture review position, or the extent of overview supporting the aggregate germline classification for this VCV record.
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Stars represent the review position, or the extent of assessment supporting the submitted (SCV) file. This value is calculated by NCBI according to data from the submitter.