About thr777
About thr777
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The outcome of the variant on RNA or protein functionality, determined by experimental proof from submitters.
This sequence improve affects codon 777 with the GAA mRNA. It is just a 'silent' alter, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Portion of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-similar situations.
This day signifies the final time this VCV document was up-to-date. The update might be as a consequence of an update to one of many involved submitted documents (SCVs), or as a consequence of an update that ClinVar built towards the variant including incorporating HGVS expressions or maybe a rs selection.
The global minor allele frequency calculated because of the a thousand Genomes Project. The minor allele at this locale is indicated in parentheses and could be unique from the allele represented by this VCV document.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about publishing that information and facts to ClinVar.
The number of variants in ClinVar which have been contained within just this gene, by using a website link to see the listing of variants.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this area. Be sure to assessment the LitVar success very carefully on your variant of fascination. History last up to date May perhaps 19, 2024
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Stars depict the mixture evaluation position, or the level of evaluation supporting the combination germline classification for this VCV file.
The number of variants in ClinVar for this gene, together with scaled-down variants in the gene and larger CNVs that overlap or absolutely incorporate the gene.
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