What Does thr777 Mean?
What Does thr777 Mean?
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The result of the variant on RNA or protein functionality, based upon experimental proof from submitters.
This value is calculated by NCBI based on data from submitters. Browse our policies for calculating the assessment standing. The volume of submissions which lead to this assessment position is proven in parentheses.
There isn't any functional proof in ClinVar for this variation. In case you have produced practical info for this variation, remember to look at distributing that information to ClinVar.
The global slight allele frequency calculated via the 1000 Genomes Project. The insignificant allele at this locale is indicated in parentheses and should be diverse with the allele represented by this VCV history.
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Browse our procedures for calculating the evaluate standing. This column also thr777 includes a link to the submitter’s assertion conditions if presented, and the collection method.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
These citations are determined by LitVar using the rs variety, so They could contain citations for multiple variant at this locale. Remember to overview the LitVar success meticulously for your variant of curiosity. File past updated Could 19, 2024
Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or totally comprise the gene.
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Stars signify the evaluation position, or the level of critique supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details with the submitter.