thr777 No Further a Mystery

thr777 No Further a Mystery

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The impact from the variant on RNA or protein function, depending on experimental proof from submitters.

This sequence adjust affects codon 777 in the GAA mRNA. It is a 'silent' improve, that means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Element of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related problems.

This day signifies the last time this VCV document was current. The update could be due to an update to one of many involved submitted documents (SCVs), or because of an update that ClinVar created on the variant for instance introducing HGVS expressions or a rs number.

The global slight allele frequency calculated through the one thousand Genomes Job. The minor allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV file.

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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to look at publishing that information and facts to ClinVar.

The number of variants in ClinVar that are contained within just this gene, by using a hyperlink to view the list of variants.

These citations are discovered by LitVar using the rs amount, so They could contain citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently to your variant of fascination. History last up to date May well 19, 2024 

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Stars depict the aggregate review standing, or the level of evaluate supporting the mixture germline classification for this VCV record.

The volume of variants in ClinVar for this gene, which includes smaller variants in the gene and bigger CNVs that overlap or totally consist of the gene.

You are able to e-mail the positioning proprietor to let them know you have been blocked. Remember to include things like Anything you were thr777 being doing when this page arrived up and the Cloudflare Ray ID found at The underside of the webpage.

Stars depict the overview status, or the extent of evaluate supporting the submitted (SCV) report. This price is calculated by NCBI determined by info from your submitter.