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thr777 Can Be Fun For Anyone
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The outcome of your variant on RNA or protein functionality, based upon experimental proof from submitters.
This value is calculated by NCBI according to details from submitters. Examine our procedures for calculating the critique standing. The amount of submissions which lead to this overview status is revealed in parentheses.
This date represents the last time this VCV report was current. The update might be due to an update to one of many involved submitted documents (SCVs), or because of an update that ClinVar created on the variant which include introducing HGVS expressions or a rs quantity.
The worldwide slight allele frequency calculated through the 1000 Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be various from the allele represented by this VCV history.
The ailment to the classification, provided by the submitter for this submitted (SCV) file. This column also consists of the influenced position and allele origin of individuals noticed with this variant.
The aggregate germline classification for this variant, normally for the monogenic or Mendelian dysfunction as in the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Study our guidelines for calculating the mixture classification.
Examine our regulations for calculating the overview position. This column also features a hyperlink on the submitter’s assertion criteria if supplied, and the gathering system.
The distributing Corporation for this submitted (SCV) record. This column also incorporates the SCV accession and Variation amount, the day this SCV first appeared in ClinVar, along with the date that this SCV was final updated in ClinVar.
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Aberrant five' splice web sites in human ailment genes: mutation sample, nucleotide composition and comparison of computational tools that predict their utilization.
Stars characterize the combination assessment position, or the level of evaluation supporting the combination germline classification for this VCV file.
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