thr777 Fundamentals Explained
thr777 Fundamentals Explained
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The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This sequence modify affects codon 777 on the GAA mRNA. It's a 'silent' improve, 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 16, 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 while in the literature in folks affected with GAA-associated ailments.
This day signifies the final time this VCV document was up-to-date. The update might be resulting from an update to among the provided submitted data (SCVs), or due to an update that ClinVar produced for the variant such as adding HGVS expressions or simply a rs amount.
This column involves more details supporting the classification, which include citations, the comment on classification, and comprehensive proof presented as observations in the variant from the submitter.
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There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, make sure you contemplate thr777 distributing that data to ClinVar.
The volume of variants in ClinVar which are contained inside this gene, which has a backlink to perspective the listing of variants.
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Aberrant 5' splice sites in human ailment genes: mutation sample, nucleotide structure and comparison of computational instruments that forecast their utilization.
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