thr777 - An Overview
thr777 - An Overview
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the outcome of sequence modifications on RNA splicing propose this variant may well create or strengthen a splice website. In summary, the offered evidence is at present insufficient to ascertain the job of the variant in sickness. Therefore, it's been categorised for a Variant of Uncertain Significance.
This benefit is calculated by NCBI dependant on facts from submitters. Examine our rules for calculating the evaluate standing. The amount of submissions which lead to this assessment position is proven in parentheses.
This date represents the last time this VCV file was up-to-date. The update might be due to an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or simply a rs selection.
The global minimal allele frequency calculated with the one thousand Genomes Venture. The minor allele at this locale is indicated in parentheses and should be distinct from your allele represented by this VCV record.
The condition to the classification, provided by the submitter for this submitted (SCV) history. This column also features the affected standing and allele origin of individuals observed using this type of variant.
The aggregate germline classification for this variant, normally for the monogenic or Mendelian ailment as in the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Go through our policies for calculating the mixture classification.
There aren't any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, make sure you take into account distributing that data to ClinVar.
The distributing Business for this submitted (SCV) document. This column also contains the SCV accession and version number, the day this SCV 1st appeared thr777 in ClinVar, along with the day that this SCV was very last up to date in ClinVar.
These citations are determined by LitVar using the rs variety, so They might include things like citations for multiple variant at this area. You should overview the LitVar success diligently to your variant of fascination. Record final up-to-date May perhaps 19, 2024
Aberrant five' splice web sites in human disorder genes: mutation pattern, nucleotide composition and comparison of computational instruments that predict their utilization.
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