thr777 No Further a Mystery

thr777 No Further a Mystery

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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the result of sequence changes on RNA splicing advise this variant could create or bolster a splice website. In summary, the offered proof is now inadequate to find out the position of this variant in illness. Consequently, it's been categorized for a Variant of Uncertain Importance.

This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in persons affected with GAA-relevant situations.

This day represents the last time this VCV record was up to date. The update can be as a result of an update to on the list of integrated submitted information (SCVs), or because of an update that ClinVar manufactured to your variant such as adding HGVS expressions or simply a rs number.

This column incorporates more information supporting the classification, which includes citations, the touch upon classification, and in depth proof furnished as observations of your variant by the submitter.

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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account publishing that information to ClinVar.

The number of variants in ClinVar which have been contained within just this gene, which has a hyperlink to look at the listing of variants.

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Stars depict the combination critique status, or the level of evaluation supporting the combination germline classification for this VCV file.

The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.

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