thr777 No Further a Mystery
thr777 No Further a Mystery
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The effect of the variant on RNA or protein function, according to experimental proof from submitters.
This sequence improve influences codon 777 from the GAA mRNA. It's really a 'silent' modify, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been described in the literature in persons afflicted with GAA-connected disorders.
This date signifies the final time this VCV history was updated. The update may very well be as a result of an update to among the list of integrated submitted data (SCVs), or as a result of an update that ClinVar made to the variant like including HGVS expressions or even a rs selection.
The worldwide slight allele frequency calculated from the 1000 Genomes Job. The insignificant allele at this site is indicated in parentheses and should be distinct from your allele represented by this VCV report.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, thr777 please consider publishing that details to ClinVar.
The submitting organization for this submitted (SCV) report. This column also contains the SCV accession and version range, the date this SCV first appeared in ClinVar, plus the date that this SCV was past up to date in ClinVar.
These citations are discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this place. Remember to assessment the LitVar outcomes meticulously for the variant of desire. History previous up-to-date May 19, 2024
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Stars stand for the evaluate position, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI based on details in the submitter.