The 5-Second Trick For slot thr777
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The amount of variants in ClinVar that are contained inside this gene, by using a link to perspective the listing of variants.
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence changes on RNA splicing advise that this variant may perhaps make or fortify a splice internet site. In summary, the accessible proof is presently inadequate to determine the purpose of this variant in ailment. Consequently, it's been labeled as a Variant of Uncertain Importance. (much less)
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These citations are discovered by LitVar utilizing the rs number, so they may involve citations for more than one variant at this location. Make sure you assessment the LitVar final results diligently for your variant of desire. History past up to date Could 12, 2024
The publishing Group for this submitted (SCV) record. This column also includes the SCV accession and Variation range, the day this SCV very first appeared in ClinVar, as well as the day this SCV was final updated in ClinVar.
This column incorporates more details slot thr777 supporting the classification, such as citations, the comment on classification, and in-depth evidence furnished as observations of the variant through the submitter.
The problem with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the influenced position and allele origin of people noticed with this variant.
The amount of variants in ClinVar that happen to be contained within this gene, using a link to view the list of variants.
Stars symbolize the critique status, or the extent of evaluation supporting the submitted (SCV) history. This price is calculated by NCBI according to facts from your submitter.
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The global small allele frequency calculated by the 1000 Genomes Project. The slight allele at this site is indicated in parentheses and may be distinct within the allele represented by this VCV document.
There isn't a purposeful evidence in ClinVar for this variation. In case you have created functional info for this variation, you should consider submitting that knowledge to ClinVar.