The 2-Minute Rule for thr777
The 2-Minute Rule for thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence changes on RNA splicing suggest this variant may produce or reinforce a splice web site. In summary, the readily available proof is at the moment inadequate to ascertain the purpose of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Significance.
This value is calculated by NCBI dependant on knowledge from submitters. Go through our guidelines for calculating the review standing. The amount of submissions which add to this assessment position is proven in parentheses.
This day represents the final time this VCV record was up to date. The update can be as a result of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar designed into the variant such as adding HGVS expressions or even a rs amount.
This column consists of more information supporting the classification, which include citations, the touch upon classification, and detailed proof delivered as observations with the variant through the submitter.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of people noticed using this type of variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The submitting Group for this submitted (SCV) document. This column also includes the SCV accession and Model number, the day this SCV first appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.
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Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or absolutely have the gene.
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