What Does thr777 Mean?
What Does thr777 Mean?
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence alterations on RNA splicing advise this variant may produce or reinforce a splice web site. In summary, the accessible proof is at the moment insufficient to determine the job of the variant in disorder. Hence, it's been categorised to be a Variant of Unsure Importance.
This sequence modify has an effect on codon 777 of the GAA mRNA. It's a 'silent' alter, meaning that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, 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 described within the literature in people today afflicted with GAA-associated disorders.
This date signifies the final time this VCV record was up to date. The update may very well be as a result of an update to one of the incorporated submitted data (SCVs), or because of an update that ClinVar designed on the variant for example incorporating HGVS expressions or simply a rs number.
The worldwide minor allele frequency calculated via the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique from the allele represented by this VCV document.
The situation with the classification, provided by the submitter for this submitted (SCV) document. This column also involves the afflicted position and allele origin of individuals observed using this type of variant.
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There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The number of variants in ClinVar that are contained in just this gene, that has a website link to see the listing of variants.
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or completely comprise the gene.
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Stars characterize the critique standing, or the level of overview supporting the submitted (SCV) record. thr777 This worth is calculated by NCBI based on details within the submitter.