5 Essential Elements For thr777
5 Essential Elements For thr777
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The influence on the variant on RNA or protein functionality, based upon experimental proof from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' modify, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant conditions.
This date represents the final time this VCV report was up to date. The update can be resulting from an update to among the list of involved submitted documents (SCVs), or resulting from an update that ClinVar produced towards the variant for example incorporating HGVS expressions or simply a rs number.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and will be various in the allele represented by this VCV record.
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There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, please think about submitting that information to ClinVar.
The thr777 volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
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Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The volume of variants in ClinVar for this gene, which includes smaller variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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