About thr777
About thr777
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The impact from the variant on RNA or protein operate, determined by experimental evidence from submitters.
This sequence transform influences codon 777 on the GAA mRNA. It is just a 'silent' alter, that means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be A part of the consensus splice web site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been reported during the literature in men and women affected with GAA-relevant conditions.
This day represents the final time this VCV report was up-to-date. The update might be due to an update to one of many involved submitted documents (SCVs), or on account of an update that ClinVar built for the variant for instance incorporating HGVS expressions or maybe a rs range.
The worldwide slight allele frequency calculated via the 1000 Genomes Task. The slight allele at this place is indicated in parentheses and will be distinct from your allele represented by this VCV record.
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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that facts to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a link to perspective the list of variants.
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Stars symbolize the aggregate evaluate standing, or the level of critique supporting the mixture germline classification for this VCV record.
The volume of variants in thr777 ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or totally comprise the gene.
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