thr777 No Further a Mystery
thr777 No Further a Mystery
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The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This sequence change influences codon 777 in the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported from the literature in people impacted with GAA-associated disorders.
This date signifies the last time this VCV report was up to date. The update may very well be due to an update to one of several bundled submitted records (SCVs), or as a result of an update that ClinVar designed into the variant which include adding HGVS expressions or simply a rs selection.
The global small allele frequency calculated from the a thousand Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be various in the allele represented by this VCV history.
The affliction for your classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals noticed using this variant.
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Read our rules for calculating the review position. This column also features a url on the submitter’s assertion requirements if supplied, and the gathering strategy.
The amount of variants in ClinVar which are contained in just this gene, which has a url to check out the listing of variants.
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Stars represent the combination critique standing, or the level of evaluate supporting the combination germline classification for this VCV file.
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