thr777 Options
thr777 Options
Blog Article
ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the result of sequence improvements on RNA splicing advise that this variant might build or bolster a splice web site. In summary, the obtainable evidence is at the moment inadequate to determine the function of this variant in disease. For that reason, it's been classified for a Variant of Unsure Importance.
This sequence modify affects codon 777 with the GAA mRNA. This is a 'silent' modify, that means that it doesn't alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be Section of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed from the literature in folks influenced with GAA-related ailments.
This day represents the final time this VCV document was up to date. The update may be on account of an update to one of many provided submitted data (SCVs), or due to an update that ClinVar created to your variant for instance including HGVS expressions or perhaps a rs variety.
This column features more information supporting the classification, like citations, the touch upon classification, and thorough proof offered as observations with thr777 the variant by the submitter.
The problem for that classification, supplied by the submitter for this submitted (SCV) report. This column also involves the influenced status and allele origin of people observed with this variant.
The mixture germline classification for this variant, ordinarily for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to the drug. This worth is calculated by NCBI according to information from submitters. Examine our guidelines for calculating the aggregate classification.
Browse our rules for calculating the assessment standing. This column also features a hyperlink to the submitter’s assertion criteria if provided, and the gathering process.
The number of variants in ClinVar which might be contained in this gene, using a hyperlink to check out the list of variants.
These citations are discovered by LitVar using the rs selection, so they may incorporate citations for multiple variant at this location. Make sure you review the LitVar benefits carefully for your variant of fascination. History final up-to-date May 19, 2024
Aberrant five' splice web-sites in human sickness genes: mutation pattern, nucleotide construction and comparison of computational equipment that forecast their utilization.
Stars depict the aggregate evaluation position, or the level of evaluation supporting the mixture germline classification for this VCV document.
The website is secure. The https:// makes certain that you're connecting for the official website and that any details you give is encrypted and transmitted securely.
The site is secure. The https:// makes sure that you will be connecting on the official Web page and that any information you deliver is encrypted and transmitted securely.
Stars symbolize the overview standing, or the level of assessment supporting the submitted (SCV) file. This worth is calculated by NCBI based upon data through the submitter.