Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence improvements on RNA splicing counsel this variant may produce or reinforce a splice web site. In summary, the readily available proof is at this time inadequate to find out the part of this variant in disease. Therefore, it's been labeled like a Variant of Uncertain Importance.
This benefit is calculated by NCBI dependant on facts from submitters. Read through our principles for calculating the evaluation position. The amount of submissions which contribute to this evaluate standing is revealed in parentheses.
There isn't any functional evidence in ClinVar for this variation. When you have generated purposeful details for this variation, please consider publishing that facts to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct in the allele represented by this VCV record.
The issue for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed using this variant.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please consider publishing that information and facts to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to look at the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They could incorporate citations for more than one variant at this locale. Remember to evaluation the LitVar effects diligently in your variant of interest. File last up to date May well 19, 2024
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The location is secure. The https:// makes sure you are connecting towards the Formal Web site Which any details you present is encrypted and transmitted securely.
The quantity of variants in ClinVar for this gene, which includes thr777 lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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Stars depict the overview standing, or the level of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI determined by knowledge from your submitter.