Indicators on thr777 You Should Know
Indicators on thr777 You Should Know
Blog Article
ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence changes on RNA splicing propose that this variant might make or strengthen a splice website. In summary, the readily available evidence is at this time inadequate to ascertain the job of this variant in disease. Thus, it's been categorized being a Variant of Uncertain Significance.
This sequence modify affects codon 777 of the GAA mRNA. It's a 'silent' adjust, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be Component of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed within the literature in individuals affected with GAA-relevant circumstances.
This date represents the last time this VCV record was updated. The update may very well be due to an update to one of several included submitted documents (SCVs), or on account of an update that ClinVar created to the variant for example introducing HGVS expressions or possibly a rs selection.
The global small allele frequency calculated from the 1000 Genomes Venture. The small allele at this place is indicated in parentheses and may be different from your allele represented by this VCV history.
The condition for that classification, supplied by the submitter for this submitted (SCV) report. This column also involves the afflicted status and allele origin of people noticed with this variant.
The positioning is protected. The https:// makes certain that you're connecting on the Formal website and that any details you present is encrypted and transmitted securely.
Browse our principles for calculating the evaluate standing. This column also features a website link to the submitter’s assertion requirements if offered, and the collection strategy.
The publishing organization for this submitted (SCV) report. This column also features the SCV accession and Variation variety, the date this SCV initial appeared in ClinVar, along with the date this SCV was past current in ClinVar.
These citations are recognized by LitVar using the rs quantity, so They could include things like citations for more than one variant at this site. Make sure you critique the LitVar outcomes carefully to your variant of curiosity. Record last current Could 19, 2024
Aberrant 5' splice web pages in human disorder genes: mutation sample, nucleotide composition and comparison of computational tools that forecast their utilization.
The website is protected. The https:// guarantees that you are connecting to the official Site and that any information you present is encrypted and transmitted securely.
The thr777 website is safe. The https:// makes sure that you'll be connecting to your official Internet site and that any info you present is encrypted and transmitted securely.
You can email the site operator to allow them to know you have been blocked. You should involve what you have been performing when this webpage came up as well as the Cloudflare Ray ID discovered at the bottom of this web page.
Stars represent the assessment position, or the extent of evaluation supporting the submitted (SCV) file. This price is calculated by NCBI based on information through the submitter.