thr777 Secrets
thr777 Secrets
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The influence on the variant on RNA or protein operate, based upon experimental evidence from submitters.
This sequence transform influences 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 16, and that is Section of the consensus splice website for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented during the literature in people today impacted with GAA-related situations.
There is no purposeful proof in ClinVar for this variation. When you have generated functional data for this variation, please think about publishing that details to ClinVar.
This column includes more details supporting the classification, including citations, the comment on classification, and in-depth evidence presented as observations from the variant from the submitter.
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There aren't any citations for germline classification of this variant in ClinVar. If thr777 you are aware of of citations for this variation, you should consider distributing that data to ClinVar.
The quantity of variants in ClinVar which can be contained within just this gene, by using a website link to look at the list of variants.
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Stars signify the aggregate review position, or the extent of evaluate supporting the mixture germline classification for this VCV document.
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