Top latest Five thr777 Urban news
Top latest Five thr777 Urban news
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence adjustments on RNA splicing recommend this variant may perhaps build or strengthen a splice site. In summary, the available proof is at present inadequate to determine the job of this variant in condition. As a result, it's been labeled as being a Variant of Unsure Importance.
This sequence change impacts codon 777 on the GAA mRNA. This is a 'silent' transform, indicating that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, that's A part of the consensus splice web-site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been reported inside the literature in people today influenced with GAA-connected circumstances.
This day represents the final time this VCV document was current. The update may be because of an update to among the list of provided submitted information (SCVs), or resulting from an update that ClinVar made for the variant for instance incorporating HGVS expressions or a rs quantity.
The global small allele frequency calculated by the one thousand Genomes Undertaking. The minimal allele at this place is indicated in parentheses and could be distinct in the allele represented by this VCV file.
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There isn't any citations for thr777 germline classification of the variant in ClinVar. If you realize of citations for this variation, please think about submitting that information to ClinVar.
The submitting organization for this submitted (SCV) report. This column also involves the SCV accession and Variation amount, the day this SCV very first appeared in ClinVar, plus the day this SCV was very last up to date in ClinVar.
These citations are recognized by LitVar using the rs selection, so they may involve citations for more than one variant at this site. Make sure you assessment the LitVar final results carefully to your variant of desire. History past current Might 19, 2024
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Stars represent the aggregate critique standing, or the extent of critique supporting the aggregate germline classification for this VCV history.
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Stars symbolize the evaluation status, or the level of review supporting the submitted (SCV) file. This price is calculated by NCBI determined by knowledge from your submitter.