The influence in the variant on RNA or protein perform, depending on experimental proof from submitters.
This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons affected with GAA-connected disorders.
This date represents the last time this VCV file was up-to-date. The update may be as a consequence of an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or a rs quantity.
This column involves more details supporting the classification, such as citations, the touch upon classification, and in depth proof presented as observations in the variant by the submitter.
The positioning is protected. The https:// assures you are connecting to the official website and that any data you offer is encrypted and transmitted securely.
The location is protected. The https:// guarantees that you will be connecting into the official Site and that any data you deliver thr777 is encrypted and transmitted securely.
Examine our regulations for calculating the overview status. This column also features a connection into the submitter’s assertion standards if presented, and the collection process.
The quantity of variants in ClinVar which might be contained within just this gene, that has a url to check out the listing of variants.
These citations are recognized by LitVar utilizing the rs selection, so they may include citations for more than one variant at this location. Make sure you evaluate the LitVar outcomes thoroughly in your variant of interest. Record last up to date May well 19, 2024
Aberrant five' splice websites in human disease genes: mutation pattern, nucleotide composition and comparison of computational tools that predict their utilization.
The site is safe. The https:// guarantees you are connecting on the official Web site and that any details you supply is encrypted and transmitted securely.
The quantity of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or completely comprise the gene.
You may electronic mail the site owner to allow them to know you were blocked. Make sure you contain Whatever you ended up executing when this web site arrived up plus the Cloudflare Ray ID uncovered at The underside of this web page.
The site is protected. The https:// assures that you're connecting to the Formal Site Which any data you supply is encrypted and transmitted securely.