Facts About thr777 Revealed
Facts About thr777 Revealed
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the outcome of sequence modifications on RNA splicing propose that this variant could generate or fortify a splice site. In summary, the out there proof is presently inadequate to find out the position of this variant in sickness. Therefore, it's been labeled as a Variant of Unsure Significance.
This worth is calculated by NCBI according to details from submitters. Read through our guidelines for calculating the evaluate standing. The number of submissions which add to this assessment position is proven in parentheses.
This day signifies the final time this VCV file was up-to-date. The update can be because of an update to among the list of bundled submitted documents (SCVs), or on account of an update that ClinVar built on the variant like adding HGVS expressions or even a rs number.
The global small allele frequency calculated with the one thousand Genomes Task. The small allele at this location is indicated in parentheses and could be diverse within the allele represented by this VCV record.
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There isn't any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, make sure you contemplate distributing that info to ClinVar.
The number of variants in ClinVar which can be contained in this gene, that has a connection to look at the listing of variants.
These citations are discovered by LitVar using the rs variety, so they may consist of citations for more than one variant at this location. You should overview the LitVar effects diligently on your variant of desire. Document very last updated May possibly 19, 2024
Aberrant five' splice internet sites in human illness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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The amount of variants in ClinVar for this gene, which include scaled-down variants within the gene and larger CNVs that overlap or fully incorporate the gene.
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