Facts About thr777 Revealed
Facts About thr777 Revealed
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the effect of sequence alterations on RNA splicing suggest that this variant might make or fortify a splice website. In summary, the offered evidence is at the moment insufficient to determine the role of the variant in disorder. Thus, it has been categorized as being a Variant of Unsure Significance.
This sequence modify has an effect on codon 777 on the GAA mRNA. It's a 'silent' transform, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-associated disorders.
This date represents the last time this VCV record was current. The update could be due to an update to one of many involved submitted documents (SCVs), or because of an update that ClinVar created on the variant which include introducing HGVS expressions or a rs quantity.
This column includes additional information supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations with the variant through the submitter.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of people noticed with this particular variant.
The aggregate germline classification for this variant, generally for just a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI determined by data from submitters. Read through our rules for calculating the mixture classification.
Examine our regulations for calculating the critique standing. This column also includes a link on the submitter’s assertion conditions if furnished, and the gathering method.
The submitting Corporation for this submitted (SCV) report. This column also contains the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day that this SCV was last up to date in ClinVar.
These citations are determined by LitVar using the rs selection, so They might include citations for more than one variant at this area. You should critique the LitVar results very carefully for the variant of curiosity. File past current Might 19, 2024
Aberrant five' splice sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
Stars depict the aggregate review position, or the level of review supporting the mixture germline classification for this VCV document.
The amount of variants in ClinVar for this gene, together with scaled-down variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
It is possible to email the location operator to allow them to know you were being blocked. Please contain Whatever you ended up accomplishing when this page arrived up as well as Cloudflare Ray ID found at The underside of the site.
Stars stand for the evaluate standing, or thr777 the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI depending on data from the submitter.