The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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The volume of variants in ClinVar which can be contained within just this gene, with a link to look at the listing of variants.
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The amount of variants in ClinVar for this gene, together with lesser variants throughout the gene and larger CNVs that overlap or totally include the gene.
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the outcome of sequence alterations on RNA splicing recommend that this variant may well produce or fortify a splice web site. In summary, the available evidence is at this time insufficient to find out the job of this variant in sickness. For that reason, it has been categorized for a Variant of Uncertain Significance. Okay
These citations are discovered by LitVar utilizing the rs quantity, so They could consist of citations for multiple variant at this location. Remember to review the LitVar effects cautiously in your variant of interest. File past current Might 19, 2024
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