Facts About thr777 Revealed
Facts About thr777 Revealed
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing counsel this variant may perhaps produce or bolster a splice web site. In summary, the accessible evidence is presently insufficient to ascertain the purpose of the variant in ailment. For that reason, it has been categorized being a Variant of Uncertain Importance.
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 on the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Section of the consensus splice site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in men and women afflicted with GAA-related ailments.
This date signifies the last time this VCV record was up to date. The update could possibly be due to an update to among the list of included submitted information (SCVs), or on account of an update that ClinVar manufactured to your variant for instance including HGVS expressions or simply a rs range.
This column features additional information supporting the classification, like citations, the comment on thr777 classification, and in-depth evidence supplied as observations of your variant with the submitter.
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The aggregate germline classification for this variant, generally for just a monogenic or Mendelian dysfunction as within the ACMG/AMP pointers, or for reaction to the drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.
There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, make sure you consider publishing that info to ClinVar.
The amount of variants in ClinVar which can be contained inside this gene, which has a backlink to check out the listing of variants.
These citations are recognized by LitVar utilizing the rs number, so They might include citations for more than one variant at this locale. Make sure you evaluate the LitVar outcomes diligently to your variant of fascination. History final up-to-date May perhaps 19, 2024
Aberrant 5' splice web-sites in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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The quantity of variants in ClinVar for this gene, which includes smaller variants inside the gene and bigger CNVs that overlap or absolutely have the gene.
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The website is secure. The https:// makes sure that you'll be connecting towards the Formal Web-site Which any details you offer is encrypted and transmitted securely.