Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the impact of sequence improvements on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the readily available evidence is at the moment insufficient to determine the role of the variant in disorder. Thus, it has been labeled being a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon knowledge from submitters. Study our rules for calculating the overview standing. The number of submissions which add to this assessment standing is revealed in parentheses.
This day signifies the final time this VCV record was updated. The update could possibly be as a result of an update to among the list of included submitted information (SCVs), or on account of an update that ClinVar designed into the variant like adding HGVS expressions or even a rs variety.
The global slight allele frequency calculated through the 1000 Genomes Venture. The minor allele at this area is indicated in parentheses and will be distinct in the allele represented by this VCV record.
The problem for the classification, supplied by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed using this type of variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that details to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
These citations are identified by LitVar using the rs number, so They might involve citations for multiple variant at this location. Remember to review the LitVar final results diligently to your variant of fascination. History final up-to-date May perhaps 19, 2024
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Stars stand for the aggregate evaluation position, or the level of review supporting the combination germline classification for this VCV document.
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Stars depict the overview standing, or the level of review supporting the submitted (SCV) history. This benefit is calculated thr777 by NCBI based upon facts through the submitter.