5 Easy Facts About thr777 Described
5 Easy Facts About thr777 Described
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing propose that this variant could make or reinforce a splice internet site. In summary, the out there proof is at this time inadequate to ascertain the role of the variant in sickness. Consequently, it's been categorized like a Variant of Uncertain Importance.
This sequence transform affects codon 777 of your GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be A part of the consensus splice web site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women influenced with GAA-associated conditions.
This date signifies the final time this VCV record was up to date. The update could be due to an update to one of several bundled submitted records (SCVs), or on account of an update that ClinVar built to the variant including including HGVS expressions or possibly a rs range.
This column incorporates additional information supporting the classification, which includes citations, the touch upon classification, and thorough evidence furnished as observations with the variant with the submitter.
The problem for the classification, furnished by the submitter for this submitted (SCV) file. This column also consists of the influenced 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 disorder as while in the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Read through our regulations for calculating the aggregate classification.
Study our principles for calculating the overview status. This column also features a backlink towards the submitter’s assertion conditions if supplied, and the gathering system.
The publishing Group for this submitted (SCV) report. This column also includes the SCV accession and Model amount, the day this SCV very first appeared in ClinVar, as well as the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar using the rs range, so they may include things like citations for more than one variant at this site. Make sure you evaluate the LitVar final results thoroughly for the variant of fascination. History final up to date May well 19, 2024
Aberrant 5' splice websites in human illness thr777 genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
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Stars characterize the critique standing, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI according to information from the submitter.