ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing recommend that this variant might generate or fortify a splice web site. In summary, the accessible evidence is currently inadequate to find out the purpose of this variant in ailment. For that reason, it's been categorised as a Variant of Unsure Significance.
This price is calculated by NCBI depending on information from submitters. Read our procedures for calculating the critique standing. The volume of submissions which contribute to this overview position is shown in parentheses.
There is no practical proof in ClinVar for this variation. If you have generated useful data for this variation, be sure to look at distributing that info to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Task. The slight allele at this place is indicated in parentheses and may be unique from your allele represented by this VCV file.
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Browse our regulations for calculating the overview standing. This column also features a backlink to your submitter’s assertion requirements if supplied, and the gathering strategy.
The amount of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.
These citations are determined by LitVar using the rs number, so they may contain citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently to your variant of fascination. History final up to date May well 19, 2024
Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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