thr777 Options
thr777 Options
Blog Article
ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the influence of sequence modifications on RNA splicing propose that this variant could make or improve a splice web page. In summary, the obtainable evidence is presently insufficient to ascertain the job of the variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.
This sequence adjust affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part 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 noted during the literature in individuals impacted with GAA-similar circumstances.
This day signifies the final time this VCV record was up to date. The update may very well be on account of an update to on the list of integrated submitted information (SCVs), or resulting from an update that ClinVar built to the variant including including HGVS expressions or possibly a rs range.
The global slight allele frequency calculated via the 1000 Genomes Job. The minor allele at this spot is indicated in parentheses and could be various within the allele represented by this VCV file.
The problem with the classification, supplied by the submitter for this submitted (SCV) document. This column also includes the influenced position and allele origin of individuals noticed using this type of variant.
The location is protected. The https:// ensures you are connecting into the Formal Web page and that any data you offer is encrypted and transmitted securely.
Browse our procedures for calculating the evaluate standing. This column also includes a link to the submitter’s assertion conditions if presented, and the collection technique.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Edition number, the date this SCV to start with appeared in ClinVar, and also the day this SCV was previous current in ClinVar.
These citations are determined by LitVar using the rs selection, so they may consist of citations for more than one variant at thr777 this site. Make sure you critique the LitVar results thoroughly for your variant of curiosity. Report past updated May possibly 19, 2024
Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
The site is safe. The https:// guarantees that you'll be connecting to your official Web page and that any facts you offer is encrypted and transmitted securely.
The positioning is secure. The https:// makes sure that you're connecting into the official Site and that any data you deliver is encrypted and transmitted securely.
The website is safe. The https:// makes certain that you are connecting for the official Internet site Which any information and facts you provide is encrypted and transmitted securely.
The internet site is safe. The https:// guarantees that you're connecting to the Formal Site Which any facts you offer is encrypted and transmitted securely.