Details, Fiction and thr777
Details, Fiction and thr777
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The result on the variant on RNA or protein perform, determined by experimental evidence from submitters.
This sequence change affects codon 777 in the GAA mRNA. This is a 'silent' change, this means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in persons affected with GAA-connected disorders.
This date represents the last time this VCV report was current. The update might be as a consequence of an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar created on the variant for instance introducing HGVS expressions or a rs quantity.
The global insignificant allele frequency calculated through the 1000 Genomes Job. The insignificant allele at this area is indicated in parentheses and will be different from the allele represented by this VCV history.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, make sure you think about submitting that info to ClinVar.
The number of variants in ClinVar that are contained in just this thr777 gene, by using a website link to perspective the list of variants.
These citations are identified by LitVar using the rs selection, so they may include things like citations for multiple variant at this area. Be sure to evaluation the LitVar effects cautiously in your variant of desire. Record previous up-to-date May 19, 2024
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or completely comprise the gene.
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Stars represent the evaluate standing, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI determined by facts through the submitter.