What Does thr777 Mean?
What Does thr777 Mean?
Blog Article
The outcome of your variant on RNA or protein purpose, based on experimental proof from submitters.
This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is A part of the consensus splice web-site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant disorders.
This date represents the last time this VCV report was current. The update might be as a consequence of an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar created on the variant for instance introducing HGVS expressions or a rs quantity.
This column features more information supporting the classification, such as citations, the comment on classification, and comprehensive proof provided as observations on the variant via the submitter.
The issue with the classification, provided by the submitter for this submitted (SCV) file. This column also features the affected status and allele origin of individuals observed using this variant.
The internet site is secure. The https:// assures that you'll be connecting towards the official Internet site thr777 Which any information and facts you provide is encrypted and transmitted securely.
Read through our policies for calculating the overview status. This column also features a connection to your submitter’s assertion standards if offered, and the gathering technique.
The publishing Group for this submitted (SCV) document. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date this SCV was last updated in ClinVar.
These citations are determined by LitVar using the rs amount, so They could include citations for more than one variant at this site. Please critique the LitVar outcomes very carefully to your variant of interest. History very last updated May 19, 2024
The internet site is protected. The https:// ensures that you are connecting on the official Web site and that any info you supply is encrypted and transmitted securely.
Stars symbolize the aggregate evaluate position, or the extent of assessment supporting the aggregate germline classification for this VCV document.
The volume of variants in ClinVar for this gene, like smaller sized variants in the gene and larger CNVs that overlap or absolutely consist of the gene.
You could email the website owner to let them know you had been blocked. Remember to include things like Anything you were performing when this site came up plus the Cloudflare Ray ID uncovered at The underside of this webpage.
The positioning is secure. The https:// ensures that you'll be connecting to your official website Which any info you provide is encrypted and transmitted securely.