ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing advise this variant may well build or strengthen a splice site. In summary, the accessible proof is at the moment inadequate to find out the position of this variant in condition. As a result, it has been categorised to be a Variant of Unsure Significance.
This price is calculated by NCBI based on details from submitters. Examine our regulations for calculating the overview status. The volume of submissions which lead to this review standing is shown in parentheses.
There is no functional proof in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to consider submitting that knowledge to ClinVar.
This column consists of more info supporting the classification, together with citations, the comment on classification, and detailed proof supplied as observations of your variant with the submitter.
The problem with the classification, supplied by the submitter for this submitted (SCV) file. This column also incorporates the affected status and allele origin of people 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 recognize of citations for this variation, you should look at distributing that data to ClinVar.
The quantity of variants in ClinVar that happen to be contained in this gene, having a link to watch the list of variants.
These citations are determined by LitVar utilizing the rs quantity, so They might contain citations for more than one variant at this spot. Please critique the LitVar outcomes thoroughly in your variant of curiosity. Report past updated May possibly 19, 2024
Aberrant thr777 five' splice web-sites in human condition genes: mutation sample, nucleotide composition and comparison of computational equipment that forecast their utilization.
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The volume of variants in ClinVar for this gene, which include more compact variants throughout the gene and larger CNVs that overlap or absolutely incorporate the gene.
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Stars signify the overview position, or the extent of review supporting the submitted (SCV) report. This worth is calculated by NCBI based upon info in the submitter.