thr777 Secrets
thr777 Secrets
Blog Article
The influence of the variant on RNA or protein functionality, determined by experimental proof from submitters.
This sequence transform has an effect on codon 777 of your GAA mRNA. This is a 'silent' change, meaning that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice web site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported during the literature in persons influenced with GAA-related problems.
There isn't a functional proof in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to consider publishing that facts to ClinVar.
This column involves more details supporting the classification, like citations, the comment on classification, and specific evidence supplied as observations on the variant through the submitter.
The website is secure. The https:// assures that you'll be connecting to your official Site Which any details you deliver is encrypted and transmitted securely.
The aggregate germline classification for this variant, normally for thr777 a monogenic or Mendelian disorder as inside the ACMG/AMP recommendations, or for reaction to the drug. This price is calculated by NCBI depending on knowledge from submitters. Examine our rules for calculating the aggregate classification.
Examine our regulations for calculating the assessment standing. This column also includes a website link towards the submitter’s assertion criteria if delivered, and the gathering system.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the day this SCV 1st appeared in ClinVar, and also the day this SCV was final current in ClinVar.
These citations are recognized by LitVar utilizing the rs number, so They might include citations for more than one variant at this site. Please critique the LitVar benefits very carefully on your variant of fascination. Record final up-to-date May perhaps 19, 2024
The website is safe. The https:// ensures that you will be connecting to your Formal website and that any data you present is encrypted and transmitted securely.
Stars characterize the mixture assessment standing, or the level of evaluate supporting the mixture germline classification for this VCV file.
The location is secure. The https:// guarantees that you'll be connecting to the official Internet site Which any info you deliver is encrypted and transmitted securely.
The location is safe. The https:// assures that you'll be connecting towards the official Internet site and that any information and facts you give is encrypted and transmitted securely.
The positioning is secure. The https:// guarantees that you're connecting into the official website and that any details you present is encrypted and transmitted securely.