Facts About link thr777 Revealed
Facts About link thr777 Revealed
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This worth is calculated by NCBI based upon details from submitters. Browse our policies for calculating the overview standing. The number of submissions which lead to this evaluate status is revealed in parentheses.
Stars characterize the evaluation standing, or the extent of assessment supporting the submitted (SCV) file. This benefit is calculated by NCBI depending on details from your submitter.
The number of variants in ClinVar for this gene, such as smaller variants in the gene and larger CNVs that overlap or fully comprise the gene.
ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence modifications on RNA splicing counsel that this variant may perhaps develop or fortify a splice internet site. In summary, the available evidence is now insufficient to find out the purpose of this variant in ailment. Therefore, it has been labeled as a Variant of Uncertain Importance. Alright
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this location. You should critique the LitVar outcomes diligently for the variant of interest. File past updated May possibly 19, 2024
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There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.
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