thr777 Secrets
thr777 Secrets
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The effect of the variant on RNA or protein operate, according to experimental proof from submitters.
This sequence alter has an effect on codon 777 of the GAA mRNA. It's really a 'silent' transform, which means that it does not change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, that is A part of the consensus splice web page for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been noted from the literature in people afflicted with GAA-connected situations.
There's no useful evidence in ClinVar for this variation. When you have created purposeful details for this variation, please think about publishing that details to ClinVar.
The worldwide small allele frequency calculated via the a thousand Genomes Undertaking. The insignificant allele at this site is indicated in parentheses and should be distinct from your allele represented by this VCV record.
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There isn't any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, you should take into consideration distributing that data to ClinVar.
The number of variants in ClinVar that are contained within this gene, which has a hyperlink to check thr777 out the list of variants.
These citations are discovered by LitVar using the rs variety, so They could include citations for more than one variant at this site. Make sure you critique the LitVar benefits meticulously in your variant of curiosity. History final up to date May well 19, 2024
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Stars characterize the mixture overview standing, or the extent of assessment supporting the mixture germline classification for this VCV record.
The volume of variants in ClinVar for this gene, which includes smaller variants inside the gene and bigger CNVs that overlap or entirely incorporate the gene.
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Stars depict the overview status, or the extent of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI determined by knowledge through the submitter.