thr777 Options

thr777 Options

Blog Article

ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence adjustments on RNA splicing propose that this variant could develop or reinforce a splice internet site. In summary, the out there proof is at this time inadequate to find out the part of this variant in disease. Therefore, it's been classified as a Variant of Uncertain Importance.

This sequence alter influences codon 777 of your GAA mRNA. It is a 'silent' transform, which means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked circumstances.

There is not any useful evidence in ClinVar for this variation. If you have created useful facts for this variation, you should take into consideration publishing that knowledge to ClinVar.

The global small allele frequency calculated from the 1000 Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be various with the allele represented by this VCV document.

The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also includes the impacted position and allele origin of individuals observed using this type of variant.

The positioning is protected. The https:// makes sure that you're connecting to your official Site and that any facts you deliver is encrypted and transmitted securely.

Study our principles for calculating the assessment position. This column also features a website link for the submitter’s assertion criteria if provided, and the gathering approach.

The number of variants in ClinVar that are contained in just this gene, using a link to watch the list of variants.

These citations are discovered by LitVar using the rs range, so they may involve citations for more than one variant at this spot. Please overview the LitVar results meticulously for your variant of curiosity. File past updated Could 19, 2024 

Aberrant five' thr777 splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.

The location is secure. The https:// makes sure you are connecting towards the Formal Site Which any data you present is encrypted and transmitted securely.

The number of variants in ClinVar for this gene, like more compact variants within the gene and bigger CNVs that overlap or thoroughly contain the gene.

You'll be able to email the location operator to allow them to know you ended up blocked. You should consist of Everything you have been carrying out when this website page arrived up as well as Cloudflare Ray ID observed at The underside of this web site.

The location is protected. The https:// ensures you are connecting to your Formal Web-site Which any information and facts you offer is encrypted and transmitted securely.