The impact from the variant on RNA or protein function, according to experimental proof from submitters.

This sequence transform affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons afflicted with GAA-connected ailments.

This date represents the last time this VCV history was current. The update could be due to an update to one of several bundled submitted documents (SCVs), or because of an update that ClinVar created to your variant which include introducing HGVS expressions or a rs quantity.

This column incorporates more details supporting the classification, including citations, the touch upon classification, and in depth proof presented as observations from the variant via the submitter.

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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this thr777 variation, you should look at distributing that data to ClinVar.

The number of variants in ClinVar that are contained within just this gene, by using a website link to view the list of variants.

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Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.

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

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Stars depict the review position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on data within the submitter.