The influence on the variant on RNA or protein perform, according to experimental proof from submitters.
This sequence modify affects codon 777 of your GAA mRNA. This is a 'silent' change, which means that it does not change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Portion of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described while in the literature in people affected with GAA-connected ailments.
This day signifies the final time this VCV history was current. The update could possibly be due to an update to one of many included submitted documents (SCVs), or as a consequence of an update that ClinVar made to your variant for example adding HGVS expressions or a rs range.
The global minimal allele frequency calculated through the 1000 Genomes Undertaking. The minimal allele at this locale is indicated in parentheses and may be diverse with the allele represented by this VCV file.
The affliction for your classification, supplied by the submitter for this submitted (SCV) history. This column also contains the affected status and allele origin of individuals observed with this particular variant.
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Read through our rules for calculating the critique position. This column also features a hyperlink to your submitter’s assertion conditions if presented, and the collection method.
The amount of variants in ClinVar which can be contained in this gene, by using a website link to see the listing of variants.
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Stars symbolize the combination review standing, or the extent of critique supporting the aggregate germline classification for this VCV history.
The number of variants in ClinVar for this gene, such as scaled-down variants inside the gene and bigger CNVs that overlap or totally contain the gene.
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