ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the result of sequence variations on RNA splicing advise that this variant may build or bolster a splice website. In summary, the out there evidence is at the moment insufficient to ascertain the function of the variant in illness. As a result, it has been labeled for a Variant of Uncertain Importance.
This benefit is calculated by NCBI based on knowledge from submitters. Study our principles for calculating the assessment position. The quantity of submissions which add to this critique status is proven in parentheses.
This date signifies the final time this VCV history was up-to-date. The update might be as a result of an update to one of several provided submitted information (SCVs), or because of an update that ClinVar created to your variant which include including HGVS expressions or maybe a rs variety.
This column incorporates more info supporting the classification, which include citations, the comment on classification, and thorough proof supplied as observations of your variant from the submitter.
The ailment for your classification, supplied by the submitter for this submitted (SCV) report. This column also features the impacted status and allele origin of individuals noticed with this particular variant.
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There won't be any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, thr777 be sure to contemplate publishing that information and facts to ClinVar.
The amount of variants in ClinVar which have been contained within just this gene, with a connection to check out the list of variants.
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Aberrant 5' splice internet sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
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The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or fully consist of the gene.
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