thr777 Can Be Fun For Anyone
thr777 Can Be Fun For Anyone
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical 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 fortify a splice web page. In summary, the obtainable proof is now insufficient to determine the function of this variant in disease. For that reason, it has been categorized as being a Variant of Unsure Significance.
This price is calculated by NCBI depending on information from submitters. Read our procedures for calculating the critique status. The volume of submissions which lead to this evaluation standing is shown in parentheses.
There is not any practical proof in ClinVar for this variation. If you have created purposeful details for this variation, be sure to consider publishing that facts to ClinVar.
This column involves more details supporting the classification, including citations, the touch upon classification, and comprehensive proof offered as observations of the variant via the submitter.
The issue 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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There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that information and facts to ClinVar.
The amount of variants in ClinVar which can be contained inside this gene, which has a connection to look at the list of variants.
These citations are discovered by LitVar utilizing the rs variety, so they may contain citations for multiple variant at this locale. You should assessment the LitVar outcomes carefully in your variant of interest. File past updated Could 19, 2024
Aberrant five' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational resources that forecast their utilization.
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