The Ultimate Guide To thr777

The Ultimate Guide To thr777

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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the effect of sequence variations on RNA splicing suggest this variant may well make or fortify a splice website. In summary, the available evidence is at this time inadequate to ascertain the job of the variant in condition. As a result, it's been categorized as a Variant of Uncertain Importance.

This sequence modify has an effect on codon 777 with the GAA mRNA. This is a 'silent' alter, this means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Element of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented inside the literature in people today affected with GAA-linked circumstances.

There is not any purposeful proof in ClinVar for this variation. When you've got created useful facts for this variation, you should look at distributing that knowledge to ClinVar.

The global small allele frequency calculated from the a thousand Genomes Challenge. The minimal allele at this spot is indicated in parentheses and could be unique through the allele represented by this VCV document.

The situation for that classification, supplied by the submitter for this submitted (SCV) report. This column also features the afflicted status and allele origin of individuals observed with this particular variant.

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Read through our regulations for calculating the review position. This column also features a connection towards the submitter’s assertion criteria if delivered, and the gathering approach.

The submitting Corporation for this submitted (SCV) file. This column also consists of the SCV accession and Model amount, the day this SCV initial appeared in ClinVar, and the date this SCV was last up-to-date in ClinVar.

These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Please review the LitVar effects meticulously to your variant of fascination. History previous up-to-date Might 19, 2024 

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The quantity of variants in ClinVar for this gene, which includes smaller sized variants within the gene and bigger CNVs that overlap or totally consist of the gene.

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