The effect of the variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence transform affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-associated ailments.
This day represents the last time this VCV document was up-to-date. The update may very well be on account of an update to one of the incorporated submitted information (SCVs), or resulting from an update that ClinVar made for the variant for example incorporating HGVS expressions or simply a rs number.
The global minor allele frequency calculated with the 1000 Genomes Task. The small allele at this place is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
The affliction for the classification, supplied by the submitter for this submitted (SCV) document. This column also features the impacted standing and allele origin of people observed using this variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that information to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to look at the list of variants.
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Stars signify the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV file.
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