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ClinVar incorporates 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 predict the outcome of sequence alterations on RNA splicing recommend this variant could create or fortify a splice web site. In summary, the available evidence is at this time insufficient to ascertain the position of the variant in ailment. For that reason, it's been labeled as a Variant of Uncertain Importance. (a lot less)
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So this day may very well be distinctive within the day with the “most up-to-date submission” documented at the very best of this page. Assistance Abide by NCBI
These citations are identified by LitVar using the rs number, so they may incorporate citations for more than one variant at this site. Make sure you overview the LitVar success cautiously to your variant of curiosity. Document final updated Might 12, 2024
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The problem for that classification, furnished by the submitter for this submitted (SCV) document. This column also incorporates the afflicted status and allele origin of individuals noticed using this type of variant.
The amount of variants in ClinVar which might be contained within just this gene, which has a link to view the listing of variants.
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The global slight allele frequency calculated via the 1000 Genomes Task. The insignificant allele at this location is indicated in parentheses and will be diverse from the allele represented by this VCV file.
This benefit is calculated by NCBI depending on details from submitters. Go through our procedures for calculating the evaluation standing. The volume of submissions which contribute to this overview position is shown in parentheses.