thr777 Secrets

thr777 Secrets

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The outcome with the variant on RNA or protein operate, based upon experimental evidence from submitters.

This sequence change has an effect on codon 777 in the GAA mRNA. It is a 'silent' adjust, which 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, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons affected with GAA-linked conditions.

There's no functional evidence in ClinVar for this variation. When you've got produced purposeful information for this variation, be sure to take into account distributing that info to ClinVar.

The global small allele frequency calculated because of the one thousand Genomes Project. The slight allele at this spot is indicated in parentheses and should be various through the allele represented by this VCV document.

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There won't be any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please look at publishing that information to ClinVar.

The volume of variants in ClinVar which have been contained within just this gene, by using a hyperlink to view the listing of variants.

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Aberrant five' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.

Stars characterize the mixture evaluation position, or the level of evaluation supporting the combination germline classification for this VCV file.

The amount of variants in ClinVar for this gene, like scaled-down variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.

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Stars symbolize the evaluation position, or the level of assessment supporting the submitted (SCV) file. This value is calculated by NCBI according to details from the submitter.