ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the result of sequence modifications on RNA splicing propose this variant may perhaps make or fortify a splice web page. In summary, the obtainable proof is at this time insufficient to determine the function of the variant in condition. For that reason, it has been labeled to be a Variant of Uncertain Importance.
This value is calculated by NCBI based on information from submitters. Read our principles for calculating the evaluation position. The quantity of submissions which contribute to this critique status is revealed in parentheses.
There isn't any functional proof in ClinVar for this variation. For those who have generated functional information for this variation, make sure you contemplate publishing that information 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 by 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 individuals noticed with this variant.
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There won't be any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, you should look at distributing that data to ClinVar.
The number of variants thr777 in ClinVar that happen to be contained inside of this gene, which has a backlink to check out the listing of variants.
These citations are identified by LitVar using the rs quantity, so they may involve citations for more than one variant at this area. Be sure to assessment the LitVar final results diligently on your variant of fascination. History last up to date Could 19, 2024
Aberrant 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 scaled-down variants in the gene and bigger CNVs that overlap or completely contain the gene.
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Stars depict the overview status, or the level of evaluate supporting the submitted (SCV) history. This value is calculated by NCBI based upon details from the submitter.