New Step by Step Map For thr777
New Step by Step Map For thr777
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The influence on the variant on RNA or protein operate, determined by experimental evidence from submitters.
This sequence adjust affects codon 777 of your GAA mRNA. It's a 'silent' change, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in folks afflicted with GAA-related problems.
This date represents the final time this VCV record was current. The update may be because of an update to among the list of included submitted information (SCVs), or as a consequence of an update that ClinVar created on the variant like adding HGVS expressions or perhaps a rs number.
The worldwide insignificant allele frequency calculated from the a thousand Genomes Venture. The small allele at this area is indicated in parentheses and will be distinct 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 realize of citations for this variation, make sure you think about publishing that information and facts to ClinVar.
The amount of variants in ClinVar that are contained within just this gene, using a connection to look at the listing of variants.
These citations are determined by LitVar using the rs range, so They could include citations for multiple variant at this place. Make sure you overview the LitVar effects diligently for your variant of desire. History past current thr777 May perhaps 19, 2024
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Stars depict the mixture evaluate position, or the extent of review supporting the aggregate germline classification for this VCV document.
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Stars signify the assessment status, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI depending on information in the submitter.