ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the effect of sequence alterations on RNA splicing advise this variant may well produce or reinforce a splice internet site. In summary, the offered evidence is at the moment insufficient to determine the role of the variant in disorder. Thus, it has been classified as a Variant of Unsure Significance.
This worth is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The volume of submissions which contribute to this evaluate standing is proven in parentheses.
This day signifies the final time this VCV document was up to date. The update can be on account of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant like including HGVS expressions or possibly a rs variety.
This column involves more details supporting the classification, such as citations, the touch upon classification, and thorough evidence furnished as observations in the variant from the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of people observed using this type of variant.
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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to take into account publishing that information to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to look at the list of variants.
These citations are recognized by LitVar utilizing the rs number, so They might involve citations for more than one variant at this locale. Remember to evaluate thr777 the LitVar final results carefully for the variant of fascination. History final up to date May perhaps 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
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The amount of variants in ClinVar for this gene, together with lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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