About thr777
About thr777
Blog Article
The result on the variant on RNA or protein purpose, dependant on experimental evidence from submitters.
This price is calculated by NCBI based on information from submitters. Read through our principles for calculating the assessment status. The number of submissions which add to this evaluate standing is revealed in parentheses.
This date represents the final time this VCV report was updated. The update could possibly be as a result of an update to among the list of included submitted information (SCVs), or due to an update that ClinVar created on the variant such as adding HGVS expressions or even a rs variety.
The global insignificant allele frequency calculated via the one thousand Genomes Task. The small allele at this place is indicated in parentheses and could be distinctive from your allele represented by this VCV record.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also consists of the influenced status and allele origin of individuals noticed with this variant.
The internet site is secure. The https:// guarantees that you will be connecting to the official Site and that any information and facts you provide is encrypted and transmitted securely.
There isn't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please take into account distributing that data to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
These citations are identified by LitVar using the rs number, so They might include citations for more than one variant at this site. Make sure you critique the LitVar results meticulously for your variant of curiosity. Report last updated May possibly 19, 2024
Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
The positioning is protected. The https:// assures that you'll be connecting on the Formal Web site Which any information you give is encrypted and transmitted securely.
The number of variants in ClinVar for this gene, like lesser variants inside the gene and larger CNVs that overlap or thoroughly include the gene.
It is possible to electronic mail the website proprietor to let them know you were being blocked. Please contain Whatever you ended up accomplishing when this page arrived up and the Cloudflare Ray ID found at The underside of the page.
Stars represent the evaluation status, or the extent of critique supporting the submitted (SCV) report. This thr777 worth is calculated by NCBI depending on info from your submitter.