ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence variations on RNA splicing suggest that this variant might develop or bolster a splice internet site. In summary, the available proof is now inadequate to find out the part of this variant in disease. Therefore, it's been labeled as a Variant of Uncertain Importance.
This value is calculated by NCBI dependant on information from submitters. Browse our policies for calculating the evaluation position. The quantity of submissions which contribute to this critique status is revealed in parentheses.
There's no functional evidence in ClinVar for this variation. For those who have generated functional information for this variation, make sure you look at publishing that information to ClinVar.
This column features more info supporting the classification, which include citations, the comment on classification, and in-depth proof delivered as observations on the variant via the submitter.
The situation with the classification, supplied by the submitter for this submitted (SCV) report. This column also involves the afflicted standing and allele origin of individuals observed with this variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, please look at distributing that facts to ClinVar.
The number of variants in ClinVar which are contained in just this gene, with a hyperlink to view the list of variants.
These citations are discovered by LitVar using the rs selection, so They might contain citations for more than one variant at this place. Please assessment the LitVar results diligently for your personal variant of interest. History very last updated Might 19, 2024
Aberrant 5' splice sites in human sickness genes: mutation sample, nucleotide composition and comparison of computational equipment that forecast their utilization.
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The amount of variants in ClinVar for this gene, such as scaled-down variants within the gene and larger CNVs that overlap or absolutely have the gene.
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