ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence adjustments on RNA splicing propose that this variant may possibly make or improve a splice web page. In summary, the accessible proof is currently inadequate to find out the position of the variant in ailment. For that reason, it has been categorised to be a Variant of Unsure Significance.
This benefit is calculated by NCBI based upon knowledge from submitters. Go through our principles for calculating the review position. The quantity of submissions which contribute to this evaluate standing is shown in parentheses.
This day represents the final time this VCV file was current. The update can be as a result 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 range.
This column includes more info supporting the classification, which include citations, the comment on classification, and in depth evidence provided as observations with the variant because of the submitter.
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The mixture germline classification for this variant, usually for a monogenic or Mendelian disorder as in the ACMG/AMP suggestions, or for response into a drug. This price is calculated by NCBI dependant on data from submitters. Study our principles for calculating the mixture classification.
There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that details to ClinVar.
The amount of variants in ClinVar which are contained in just this gene, that has a website link to view the listing of variants.
These citations are determined by LitVar utilizing the rs quantity, so They might include citations for multiple variant at this site. Remember to evaluation the LitVar final results cautiously for your personal variant of curiosity. Report last up-to-date Could 19, 2024
Aberrant five' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
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The quantity of thr777 variants in ClinVar for this gene, such as scaled-down variants within the gene and larger CNVs that overlap or fully incorporate the gene.
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Stars characterize the critique standing, or the level of review supporting the submitted (SCV) history. This benefit is calculated by NCBI based upon knowledge through the submitter.