Not known Facts About thr777
Not known Facts About thr777
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The outcome on the variant on RNA or protein function, according to experimental proof from submitters.
This sequence modify affects codon 777 of the GAA mRNA. It is a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Section of the consensus splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked conditions.
This date represents the last time this VCV report was updated. The update may very well be as a result of an update to one of many involved submitted records (SCVs), or because of an update that ClinVar made towards the variant for example incorporating HGVS expressions or simply a rs number.
The global insignificant allele frequency calculated through the one thousand Genomes Challenge. The minimal allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.
The condition to the classification, furnished by the submitter for this submitted (SCV) record. This column also includes the impacted status and allele origin of individuals observed with this particular variant.
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There aren't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, make sure you take into account distributing that details to ClinVar.
The quantity of thr777 variants in ClinVar which might be contained within just this gene, which has a backlink to check out the listing of variants.
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Stars symbolize the aggregate evaluate standing, or the extent of critique supporting the mixture germline classification for this VCV record.
The quantity of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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