What Does thr777 Mean?
What Does thr777 Mean?
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing recommend that this variant might generate or bolster a splice internet site. In summary, the available proof is now insufficient to determine the role of the variant in sickness. Therefore, it's been categorised as being a Variant of Uncertain Importance.
This sequence modify has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, that means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks afflicted with GAA-associated problems.
This day signifies the final time this VCV record was up to date. The update can be on account of an update to on the list of integrated submitted information (SCVs), or resulting from an update that ClinVar made towards the variant including incorporating HGVS expressions or possibly a rs range.
The worldwide insignificant allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV file.
The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed using this type of variant.
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Read through our policies for calculating the overview status. This column also features a backlink on the submitter’s assertion requirements if supplied, and the gathering strategy.
The submitting Corporation for thr777 this submitted (SCV) file. This column also consists of the SCV accession and Model quantity, the day this SCV very first appeared in ClinVar, as well as date this SCV was last up-to-date in ClinVar.
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Stars characterize the mixture review position, or the level of review supporting the mixture germline classification for this VCV document.
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