The Definitive Guide to slot thr777
The Definitive Guide to slot thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence modifications on RNA splicing suggest that this variant may possibly produce or fortify a splice internet site. In summary, the obtainable proof is at this time insufficient to ascertain the function of the variant in sickness. For that reason, it's been categorized to be a Variant of Uncertain Significance. (less)
So this date may be diverse through the day of your “newest submission” documented at the best of the site. Support Stick to NCBI
These citations are determined by LitVar using the rs selection, so They might contain citations for multiple variant at this site. Remember to review the LitVar outcomes thoroughly to your variant of fascination. Report last updated May perhaps 19, 2024
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The quantity of variants in ClinVar for this gene, such as scaled-down variants within the gene and larger CNVs that overlap or thoroughly contain the gene.
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The global slight allele frequency calculated because of the 1000 Genomes Undertaking. The minimal allele at this location is indicated in parentheses and will be diverse within the allele represented by this VCV record.
There is not any functional evidence in ClinVar for this variation. When you've got generated practical facts for this variation, please look at publishing that information to ClinVar.