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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 relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the influence of sequence alterations on RNA splicing recommend that this variant may perhaps make or reinforce a splice web page. In summary, the offered proof is at the moment insufficient to find out the role of this variant in disorder. Thus, it has been categorised being a Variant of Unsure Significance. Okay
These citations are identified by LitVar utilizing the rs variety, so they may include things like citations for more than one variant at this site. Make sure you evaluate the LitVar benefits cautiously for your personal variant of curiosity. File last up to date May perhaps 19, 2024
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The influence from the variant on RNA or protein purpose, dependant on experimental evidence from submitters.
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The global slight allele frequency calculated because of the a thousand Genomes Venture. The insignificant allele at this place is indicated in parentheses and will be unique from the allele represented by this VCV document.
There is absolutely no purposeful proof in ClinVar for this variation. For those who have produced purposeful data for this variation, make sure you look at publishing that information to ClinVar.