A Simple Key For thr777 Unveiled

A Simple Key For thr777 Unveiled

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the result of sequence alterations on RNA splicing counsel that this variant might generate or reinforce a splice site. In summary, the out there evidence is at the moment inadequate to ascertain the role of the variant in sickness. As a result, it's been labeled for a Variant of Unsure Significance.

This sequence adjust influences codon 777 on the GAA mRNA. It is just a 'silent' improve, meaning that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Portion of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in folks afflicted with GAA-similar ailments.

This day represents the last time this VCV file was up-to-date. The update might be due to an update to one of many involved submitted information (SCVs), or as a result of an update that ClinVar produced on the variant for example introducing HGVS expressions or a rs quantity.

This column contains additional information supporting the classification, which includes citations, the comment on classification, and detailed evidence supplied as observations of the variant because of the submitter.

The affliction for your classification, provided by the submitter for this submitted (SCV) history. This column also incorporates the impacted position and allele origin of people noticed using this type of variant.

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There won't be any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, you should think about distributing that data to ClinVar.

The quantity of variants in ClinVar that happen to be contained in just this gene, having a url to watch the list of variants.

These citations are identified by LitVar utilizing the rs variety, so They could include things like citations for more than one variant at this spot. Remember to critique the LitVar results meticulously for the variant of interest. File very last current Could 19, 2024 

Aberrant 5' splice web-sites in human illness genes: mutation thr777 pattern, nucleotide construction and comparison of computational tools that predict their utilization.

Stars stand for the mixture assessment status, or the extent of overview supporting the combination germline classification for this VCV history.

The number of variants in ClinVar for this gene, together with scaled-down variants in the gene and larger CNVs that overlap or thoroughly consist of the gene.

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