New Step by Step Map For thr777
New Step by Step Map For thr777
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the influence of sequence alterations on RNA splicing counsel this variant could produce or improve a splice web page. In summary, the offered evidence is presently insufficient to find out the position of this variant in condition. For that reason, it has been classified as a Variant of Unsure Significance.
This price is calculated by NCBI based upon information from submitters. Examine our policies for calculating the overview status. The quantity of submissions which contribute to this evaluate standing is proven in parentheses.
There isn't any practical evidence in ClinVar for this variation. When you have created useful details for this variation, you should take into account submitting that info to ClinVar.
This column contains more information supporting the classification, including citations, the touch upon classification, and comprehensive proof offered as observations of the variant via the submitter.
The positioning is protected. The https:// guarantees that you'll be connecting for the Formal website and that any data you provide is encrypted and transmitted securely.
The mixture germline classification for this variant, ordinarily for your monogenic or Mendelian ailment as within the ACMG/AMP tips, or for response into a drug. This price is calculated by NCBI dependant thr777 on data from submitters. Study our guidelines for calculating the aggregate classification.
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 information to ClinVar.
The volume of variants in ClinVar which have been contained in just this gene, using a website link to see the listing of variants.
These citations are discovered by LitVar using the rs range, so they may involve citations for more than one variant at this site. Please overview the LitVar results meticulously for your personal variant of curiosity. File past current Could 19, 2024
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
The location is secure. The https:// makes sure that you will be connecting towards the Formal Site Which any details you provide is encrypted and transmitted securely.
The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or fully incorporate the gene.
You are able to e-mail the positioning proprietor to let them know you have been blocked. Remember to include things like Anything you were doing when this web page came up and also the Cloudflare Ray ID discovered at the bottom of the site.
The site is protected. The https:// makes certain that you will be connecting into the Formal Site Which any information and facts you supply is encrypted and transmitted securely.