ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the influence of sequence improvements on RNA splicing counsel this variant may perhaps create or strengthen a splice website. In summary, the offered evidence is at present insufficient to determine the role of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.
This worth is calculated by NCBI according to data from submitters. Examine our regulations for calculating the assessment status. The quantity of submissions which contribute to this assessment standing is shown in parentheses.
There isn't any functional proof in ClinVar for this variation. If you have created purposeful details for this variation, be sure to take into consideration publishing that facts to ClinVar.
This column incorporates more details supporting the classification, such as citations, the touch upon classification, and thorough proof furnished as observations in the variant via the submitter.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed using this variant.
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Examine our guidelines for calculating the overview position. This column also features a website link for the submitter’s assertion conditions if presented, and the collection strategy.
The amount of variants in ClinVar that are contained in this gene, having a backlink to look at the list of variants.
These citations are recognized by LitVar utilizing the rs number, so They might include citations for more than one variant at this site. Please critique the LitVar final results diligently for the variant of interest. File very last current Might 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
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The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.
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Stars characterize the critique standing, or the extent of evaluate supporting the submitted (SCV) document. This value is calculated by NCBI according to data from the submitter.