thr777 - An Overview
thr777 - An Overview
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The result of your variant on RNA or protein functionality, determined by experimental proof from submitters.
This worth is calculated by NCBI determined by data from submitters. Study our principles for calculating the critique standing. The number of submissions which lead to this evaluation position is proven in parentheses.
This date signifies the final time this VCV report was current. The update could possibly be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar made towards the variant which include adding HGVS expressions or even a rs amount.
This column includes more info supporting the classification, together with citations, the comment on classification, and comprehensive proof presented as observations from the variant via the submitter.
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The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as inside the ACMG/AMP guidelines, or for reaction to the drug. This benefit is calculated by NCBI based on data from submitters. Study our procedures for calculating the combination classification.
Read through our principles for calculating the overview position. This column also includes a link towards the submitter’s assertion requirements if supplied, and the collection technique.
The amount of variants in ClinVar which are contained in just this gene, having a link to look at the list of variants.
These citations are recognized by LitVar utilizing the rs range, so they may contain citations for more than one variant at this spot. Be sure to assessment the LitVar effects very carefully for your personal variant of interest. File past updated May possibly 19, 2024
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The internet site is secure. The https:// makes certain that you're connecting to the official website Which any info you deliver is encrypted and transmitted securely.
The quantity of variants in ClinVar for this gene, such as smaller variants in the gene and bigger CNVs that overlap or completely contain the gene.
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Stars symbolize the overview status, or the extent of review supporting the submitted (SCV) record. This value is calculated by NCBI thr777 depending on facts through the submitter.