Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the outcome of sequence alterations on RNA splicing recommend this variant may well generate or bolster a splice web site. In summary, the offered proof is at the moment inadequate to determine the job of this variant in ailment. For that reason, it has been labeled as being a Variant of Uncertain Significance.
This worth is calculated by NCBI depending on details from submitters. Read our regulations for calculating the review standing. The amount of submissions which lead to this evaluate standing is revealed in parentheses.
This date represents the last time this VCV file was current. The update could be because of an update to one of several bundled submitted documents (SCVs), or as a result of an update that ClinVar manufactured into the variant which include introducing HGVS expressions or perhaps a rs range.
This column incorporates more info supporting the classification, like citations, the touch upon classification, and comprehensive evidence provided as observations of your variant from the submitter.
The website is secure. The https:// ensures that you will be connecting to your Formal website and that any info you present is encrypted and transmitted securely.
The location is secure. The https:// makes certain that you're connecting to the official website Which any info you present is encrypted and transmitted securely.
Browse our procedures for calculating the critique status. This column also includes a backlink for the submitter’s assertion conditions if delivered, and the collection technique.
The publishing Firm for this submitted (SCV) document. This thr777 column also involves the SCV accession and Model quantity, the day this SCV very first appeared in ClinVar, as well as date this SCV was last updated in ClinVar.
These citations are determined by LitVar using the rs selection, so They might include things like citations for multiple variant at this area. Remember to evaluate the LitVar final results very carefully for your personal variant of interest. File past updated Could 19, 2024
The positioning is secure. The https:// guarantees you are connecting towards the Formal Site Which any information you offer is encrypted and transmitted securely.
Stars depict the aggregate evaluate standing, or the extent of evaluation supporting the mixture germline classification for this VCV record.
The volume of variants in ClinVar for this gene, which includes more compact variants in the gene and bigger CNVs that overlap or entirely have the gene.
The internet site is secure. The https:// makes certain that you'll be connecting to the Formal Internet site and that any details you give is encrypted and transmitted securely.
Stars symbolize the evaluate position, or the extent of review supporting the submitted (SCV) record. This worth is calculated by NCBI dependant on details through the submitter.