thr777 No Further a Mystery
thr777 No Further a Mystery
Blog Article
The impact in the variant on RNA or protein operate, determined by experimental proof from submitters.
This sequence transform impacts codon 777 on the GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Element of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented within the literature in individuals afflicted with GAA-similar circumstances.
This date signifies the last time this VCV report was up-to-date. The update might be on account of an update to among the bundled submitted information (SCVs), or resulting from an update that ClinVar produced on the variant which include including HGVS expressions or maybe a rs amount.
The global insignificant allele frequency calculated via the one thousand Genomes Challenge. The slight allele at this place is indicated in parentheses and will be different through the allele represented by this VCV document.
The ailment for your classification, supplied by the submitter for this submitted (SCV) file. This column also involves the impacted position and allele origin of people noticed using this type of variant.
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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, make sure you consider distributing that details to ClinVar.
The submitting Corporation for this submitted (SCV) document. This column also includes the SCV accession and Variation variety, the day this SCV 1st appeared in ClinVar, and also the date this SCV was previous updated in ClinVar.
These citations are identified by LitVar using the rs range, so they may consist of citations for thr777 more than one variant at this spot. Remember to evaluation the LitVar success cautiously for your variant of desire. Record very last current May 19, 2024
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Stars characterize the mixture assessment position, or the level of evaluation supporting the combination germline classification for this VCV report.
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Stars signify the evaluation status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge through the submitter.