thr777 Options
thr777 Options
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the impact of sequence variations on RNA splicing counsel this variant may perhaps create or strengthen a splice web site. In summary, the offered evidence is at present insufficient to determine the role of the variant in disorder. Hence, it's been categorized as being a Variant of Unsure Significance.
This price is calculated by NCBI determined by information from submitters. Read our procedures for calculating the critique standing. The volume of submissions which lead to this evaluation standing is shown in parentheses.
There isn't any practical evidence in ClinVar for this variation. When you have generated functional information for this variation, you should think about publishing that details to ClinVar.
The worldwide insignificant allele frequency calculated because of the one thousand Genomes Job. The small allele at this area is indicated in parentheses and could be various within the allele represented by this VCV report.
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Read our rules for calculating the review position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection technique.
The submitting Corporation for this submitted (SCV) report. This column also involves the SCV accession and version selection, the date this SCV initial appeared in ClinVar, and the day that this SCV was final current in ClinVar.
These citations are determined by LitVar using the rs selection, so They might thr777 incorporate citations for more than one variant at this spot. Make sure you critique the LitVar outcomes diligently to your variant of fascination. Record previous up to date May perhaps 19, 2024
Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
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Stars stand for the evaluate position, or the extent of assessment supporting the submitted (SCV) history. This benefit is calculated by NCBI dependant on facts with the submitter.