The 2-Minute Rule for login thr777
The 2-Minute Rule for login thr777
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the outcome of sequence alterations on RNA splicing recommend this variant might build or fortify a splice web page. In summary, the offered proof is at present inadequate to ascertain the function of the variant in sickness. For that reason, it's been classified for a Variant of Unsure Significance. Okay
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These citations are recognized by LitVar using the rs variety, so they may include citations for more than one variant at this site. Remember to critique the LitVar success thoroughly in your variant of desire. History final up to date Could twelve, 2024
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This column features more information supporting the classification, which include citations, the touch upon classification, and in depth proof provided as observations with the variant through the submitter.
The condition to the classification, furnished by the submitter for this submitted (SCV) file. This column also features the impacted standing and allele origin of people noticed with this particular variant.
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This date represents the final time this VCV history was updated. The update could possibly be due to an update to one of many bundled submitted records (SCVs), or as a result of an update that ClinVar designed into the variant like including HGVS expressions or possibly a rs range.
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This value is calculated by NCBI based upon data from submitters. Read through our rules for calculating the overview position. The number of submissions which lead to this critique status is proven in parentheses.