Considerations To Know About thr777
Considerations To Know About thr777
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence changes on RNA splicing suggest that this variant may produce or reinforce a splice web site. In summary, the readily available proof is at this time inadequate to find out the part of this variant in disease. Therefore, it has been classified to be a Variant of Unsure Significance.
This worth is calculated by NCBI based on details from submitters. Examine our policies for calculating the evaluation position. The quantity of submissions which contribute to this critique status is demonstrated in parentheses.
There isn't a useful evidence in ClinVar for this variation. In case you have produced practical info for this variation, make sure you contemplate submitting that information to ClinVar.
This column consists of more info supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations in the variant from the submitter.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the influenced status and allele origin of individuals noticed with this variant.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please consider publishing that information and facts to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to look at the list of variants.
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for more than one variant at this spot. Be sure to review the LitVar final results meticulously in your variant of desire. History last updated May 19, 2024
Aberrant five' splice web sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational tools that predict their utilization.
The location is secure. The https:// assures that you will be connecting towards the Formal Web site Which any info you deliver is encrypted and transmitted securely.
The quantity of 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 depict the overview status, or the extent of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI determined by knowledge from your submitter.