The thr777 Diaries
The thr777 Diaries
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The outcome of your variant on RNA or protein functionality, determined by experimental evidence from submitters.
This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' modify, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is A part of the consensus splice web-site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant disorders.
There is not any purposeful proof in ClinVar for this variation. Should you have produced useful knowledge for this variation, remember to take into account distributing that info to ClinVar.
The global minor allele frequency calculated via the a thousand Genomes Task. The small allele at this place is indicated in parentheses and could be unique with the allele represented by this VCV file.
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Read our rules for calculating the review status. This column also includes a hyperlink into the submitter’s assertion criteria if delivered, and the collection approach.
The number of variants in ClinVar which are contained in just this gene, that has a website link to see the listing of variants.
These citations are determined by LitVar utilizing the rs variety, so They could contain citations for more than one variant at this area. Be sure to overview the LitVar benefits very carefully in your variant of fascination. File very last current thr777 May perhaps 19, 2024
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The number of variants in ClinVar for this gene, which include smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.
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