ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the result of sequence variations on RNA splicing recommend that this variant might develop or bolster a splice internet site. In summary, the available proof is now inadequate to find out the position of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Significance.
This value is calculated by NCBI based on facts from submitters. Read through our principles for calculating the evaluation position. The amount of submissions which add to this overview status is demonstrated in parentheses.
There isn't a useful proof in ClinVar for this variation. Should you have produced practical knowledge for this variation, you should contemplate submitting that information to ClinVar.
This column involves more details supporting the classification, such as citations, the touch upon classification, and thorough proof furnished as observations in the variant from the submitter.
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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that details to ClinVar.
The number of variants in ClinVar that are contained in just this gene, that has a website link to see the listing of variants.
These citations are discovered by LitVar using the rs range, so they may include things like citations for multiple variant at this area. Be sure to assessment the LitVar final results meticulously to your variant of desire. Record final up-to-date May perhaps 19, 2024
Aberrant thr777 five' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
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The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly have the gene.
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Stars represent the assessment position, or the level of evaluation supporting the submitted (SCV) document. This benefit is calculated by NCBI determined by facts within the submitter.