5 Simple Techniques For thr777
5 Simple Techniques For thr777
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence variations on RNA splicing suggest this variant may produce or reinforce a splice web site. In summary, the out there proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorized being a Variant of Uncertain Importance.
This sequence change influences codon 777 from the GAA mRNA. It is just a 'silent' change, indicating that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be 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.
This date represents the last time this VCV report was current. The update could be because of an update to one of several bundled submitted documents (SCVs), or because of an update that ClinVar produced to your variant for example incorporating HGVS expressions or maybe a rs number.
This column includes more info supporting the classification, together with citations, the comment on classification, and comprehensive proof furnished as observations of the variant via the submitter.
The situation with the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people noticed with this particular variant.
The internet site is protected. The https:// makes sure that you will be connecting to the official Web site Which any details you supply is encrypted and transmitted securely.
Read through our policies for calculating the overview standing. This column also includes a connection into the submitter’s assertion standards if presented, and the collection process.
The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
These citations are discovered by LitVar utilizing the rs amount, so They could contain citations for more than one variant at thr777 this place. You should overview the LitVar benefits meticulously for your variant of fascination. Record final updated May possibly 19, 2024
The positioning is protected. The https:// guarantees that you are connecting to your official website and that any data you deliver is encrypted and transmitted securely.
The location is safe. The https:// guarantees that you are connecting into the official website and that any information you present is encrypted and transmitted securely.
The positioning is safe. The https:// guarantees that you'll be connecting on the Formal Web-site and that any facts you provide is encrypted and transmitted securely.
You may e mail the location operator to let them know you were blocked. You should contain Everything you have been carrying out when this website page came up as well as the Cloudflare Ray ID identified at The underside of the web page.
The location is secure. The https:// makes certain that you'll be connecting on the Formal Site Which any details you give is encrypted and transmitted securely.