thr777 Secrets
thr777 Secrets
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The influence of your variant on RNA or protein operate, based upon experimental proof from submitters.
This sequence improve influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it doesn't alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be part of the consensus splice web page 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-connected disorders.
This date represents the last time this VCV file was up to date. The update may be as a consequence of an update to one of many involved submitted documents (SCVs), or because of an update that ClinVar built to the variant for example incorporating HGVS expressions or maybe a rs selection.
The worldwide slight allele frequency calculated with the 1000 Genomes Project. The insignificant allele at this locale is indicated in parentheses and should be various within the allele represented by this VCV history.
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There isn't any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, be sure to look at submitting that details to ClinVar.
The number of variants in ClinVar that are contained in just this gene, that has a url to see the listing of variants.
These citations are identified by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this place. Make sure you assessment the LitVar success cautiously to your variant of fascination. Record previous up-to-date May 19, 2024
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The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars characterize the critique standing, or the level of evaluation thr777 supporting the submitted (SCV) document. This value is calculated by NCBI based on data within the submitter.