Indicators on thr777 You Should Know

Indicators on thr777 You Should Know

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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence improvements on RNA splicing counsel this variant may produce or reinforce a splice web site. In summary, the readily available proof is currently inadequate to ascertain the job of the variant in ailment. For that reason, it's been classified being a Variant of Uncertain Significance.

This sequence adjust affects codon 777 in 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 Section of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been noted from the literature in persons affected with GAA-connected disorders.

There isn't any functional evidence in ClinVar for this variation. When you've got generated practical information for this variation, make sure you contemplate submitting that data to ClinVar.

The worldwide minimal allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and will be unique with the allele represented by this VCV report.

The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also includes the impacted position and allele origin of individuals observed using this type of variant.

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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that details to ClinVar.

The amount of variants in ClinVar which are contained within this gene, which has a link to view the listing of variants.

These citations are recognized by LitVar utilizing the rs number, so They might involve citations for more than one variant at this site. Remember to critique the LitVar success very carefully for your personal variant of curiosity. File past updated Could 19, 2024 

Aberrant five' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.

Stars signify the combination critique status, or the extent of overview supporting the aggregate germline classification for this VCV history.

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