Not known Factual Statements About thr777
Not known Factual Statements About thr777
Blog Article
ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence changes on RNA splicing suggest this variant may produce or reinforce a splice website. In summary, the out there proof is at this time inadequate to find out the part of this variant in sickness. Therefore, it's been categorized like a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon knowledge from submitters. Study our guidelines for calculating the review standing. The amount of submissions which add to this assessment position is proven in parentheses.
There's no practical evidence in ClinVar for this variation. For those who have generated functional data for this variation, please contemplate submitting that info to ClinVar.
This column features more details supporting the classification, which includes citations, the comment on classification, and in-depth evidence provided as observations with the variant through the submitter.
The positioning is protected. The https:// guarantees that you'll be connecting for the Formal website and that any data you offer is encrypted and transmitted securely.
The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as in the ACMG/AMP tips, or for reaction to your drug. This price is calculated by NCBI dependant on data from submitters. Study our principles 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 info to ClinVar.
The distributing organization for this submitted (SCV) report. This column also involves the SCV accession and version variety, the day this SCV 1st appeared in ClinVar, along with the date that this SCV was past up to date in ClinVar.
These citations are identified by LitVar using the rs amount, so They could contain citations for multiple variant at this place. You should review the LitVar benefits carefully on your variant of desire. Record previous up-to-date May perhaps 19, 2024
Aberrant 5' splice sites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
The positioning is secure. The https:// ensures that you will be connecting for the Formal Web page Which any facts you give is encrypted and transmitted securely.
The number of variants in ClinVar thr777 for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
It is possible to e mail the internet site operator to allow them to know you were blocked. Please contain Whatever you ended up executing when this web site arrived up as well as Cloudflare Ray ID uncovered at The underside of this web page.
Stars characterize the evaluate position, or the extent of evaluate supporting the submitted (SCV) record. This benefit is calculated by NCBI according to information from the submitter.