About thr777
About thr777
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the outcome of sequence adjustments on RNA splicing advise this variant may well make or fortify a splice web page. In summary, the obtainable evidence is presently inadequate to ascertain the purpose of this variant in condition. Consequently, it has been classified as a Variant of Unsure Significance.
This value is calculated by NCBI based upon data from submitters. Read through our procedures for calculating the critique standing. The quantity of submissions which contribute to this evaluate standing is proven in parentheses.
There is absolutely no practical evidence in ClinVar for this variation. For those who have produced practical information for this variation, make sure you contemplate submitting that data to ClinVar.
The worldwide insignificant allele frequency calculated from the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and should be different from the allele represented by this VCV document.
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Study our guidelines for calculating the evaluate position. This column also includes a backlink into the submitter’s assertion standards if supplied, and the gathering approach.
The amount of variants in ClinVar which have been contained within just this gene, using a link to look at the list of variants.
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for more than one variant at this area. Remember to review the LitVar effects very carefully in your variant of desire. History last updated Might 19, 2024
Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide framework and comparison of computational instruments that forecast their utilization.
Stars represent the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
The amount of variants in ClinVar for this gene, together with smaller variants throughout the gene and bigger CNVs that overlap or fully consist of the gene.
The site is secure. The https:// makes sure that you are connecting to the official Web site and that any information and facts you give is encrypted and transmitted securely.
The location is safe. The https:// assures that you'll be connecting on the official Site and that any information you present is encrypted and transmitted securely.