The outcome of your variant on RNA or protein purpose, based on experimental proof from submitters.
This sequence adjust affects codon 777 with the GAA mRNA. It is just a 'silent' adjust, meaning that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice web site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people impacted with GAA-similar situations.
This day signifies the final time this VCV history was updated. The update could possibly be as a result of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar designed into the variant such as introducing HGVS expressions or simply a rs range.
The global minor allele frequency calculated by the one thousand Genomes Job. The minimal allele at this place is indicated in parentheses and may be distinctive with the allele represented by this VCV report.
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There are no citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you consider submitting that information to ClinVar.
The volume of variants in ClinVar which have been thr777 contained within just this gene, that has a url to perspective the list of variants.
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Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
Stars depict the aggregate review standing, or the level of evaluate supporting the mixture germline classification for this VCV document.
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