A Simple Key For thr777 Unveiled
A Simple Key For thr777 Unveiled
Blog Article
The result with the variant on RNA or protein functionality, determined by experimental evidence from submitters.
This sequence modify influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, indicating that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be Component of the consensus splice site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted while in the literature in men and women impacted with GAA-relevant problems.
There is absolutely no practical proof in ClinVar for this variation. For those who have produced functional information for this variation, you should consider publishing that information to ClinVar.
This column features more details supporting the classification, such as citations, the touch upon classification, and in-depth evidence provided as observations in the variant with the submitter.
The internet site is safe. The https:// assures that you will be connecting on the Formal Web page and that any details you provide is encrypted and transmitted securely.
The location is secure. The https:// assures that you are connecting to your Formal Web site Which any facts you provide is encrypted and transmitted securely.
There isn't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that information to ClinVar.
The quantity of variants in ClinVar that happen to be contained within just this gene, with a url to view the listing of variants.
These citations are recognized by LitVar utilizing the rs number, so They could consist of citations for multiple variant at this locale. Remember to evaluate the LitVar final results diligently to your variant of fascination. History final up to date May perhaps 19, 2024
The site is secure. The https:// guarantees that you're connecting towards the Formal Web page and that any details you offer is encrypted and transmitted securely.
Stars signify the combination critique status, or the extent of overview supporting the aggregate germline classification for this VCV history.
The internet site is secure. The https:// ensures that you will be connecting to the official Internet site thr777 Which any info you give is encrypted and transmitted securely.
The site is secure. The https:// assures that you will be connecting to the official Web site and that any data you deliver is encrypted and transmitted securely.
Stars signify the evaluation status, or the extent of critique supporting the submitted (SCV) report. This worth is calculated by NCBI depending on info in the submitter.