A Simple Key For thr777 Unveiled
A Simple Key For thr777 Unveiled
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the influence of sequence variations on RNA splicing propose that this variant may make or reinforce a splice internet site. In summary, the offered proof is at this time insufficient to ascertain the role of the variant in disease. As a result, it has been categorized for a Variant of Uncertain Significance.
This worth is calculated by NCBI based on facts from submitters. Examine our regulations for calculating the review position. The quantity of submissions which contribute to this assessment status is revealed in parentheses.
There isn't a purposeful evidence in ClinVar for this variation. Should you have created functional details for this variation, please contemplate submitting that info to ClinVar.
The global insignificant allele frequency calculated by the 1000 Genomes Challenge. The minimal allele at this site is indicated in parentheses and could be different from your allele represented by this VCV file.
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The combination germline classification for this variant, generally for just a monogenic or Mendelian problem as within the ACMG/AMP tips, or for response to the drug. This price is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the combination classification.
Examine our procedures for calculating the evaluate standing. This column also features a backlink for the submitter’s assertion criteria if supplied, and the collection system.
The distributing Group for this submitted (SCV) history. This column also contains the SCV accession and Model variety, the date this SCV initially appeared in ClinVar, as well as day this SCV was past up-to-date in ClinVar.
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Aberrant 5' splice web pages in human condition genes: mutation sample, nucleotide composition and comparison of computational tools that forecast their utilization.
Stars symbolize the aggregate evaluation standing, or the extent of overview supporting the combination germline classification for this VCV document.
The volume of variants in ClinVar for this gene, which include lesser variants within the gene and larger CNVs that overlap or entirely consist of the gene.
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Stars depict the evaluate standing, or thr777 the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI depending on facts with the submitter.