thr777 - An Overview
thr777 - An Overview
Blog Article
ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the outcome of sequence changes on RNA splicing propose that this variant may develop or strengthen a splice web page. In summary, the available evidence is now insufficient to ascertain the role of this variant in illness. For that reason, it's been categorised being a Variant of Unsure Significance.
This worth is calculated by NCBI dependant on details from submitters. Browse our policies for calculating the overview status. The volume of submissions which contribute to this critique standing is proven in parentheses.
This date represents the last time this VCV history was current. The update could be due to an update to one of several included submitted records (SCVs), or on account of an update that ClinVar designed to the variant like including HGVS expressions or possibly a rs range.
The global minor allele frequency calculated from the 1000 Genomes Challenge. The small allele at this area is indicated in parentheses and will be distinct from your allele represented by this VCV file.
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The combination germline classification for this variant, typically to get a monogenic or thr777 Mendelian problem as from the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.
Browse our procedures for calculating the evaluate standing. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection method.
The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
These citations are identified by LitVar using the rs selection, so They might include citations for more than one variant at this site. Please overview the LitVar results meticulously for your variant of curiosity. Report last updated May possibly 19, 2024
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Stars depict the aggregate review standing, or the extent of overview supporting the aggregate germline classification for this VCV file.
The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or fully incorporate the gene.
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Stars stand for the evaluate position, or the level of evaluation supporting the submitted (SCV) document. This benefit is calculated by NCBI dependant on details with the submitter.