What Does thr777 Mean?
What Does thr777 Mean?
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The outcome with the variant on RNA or protein operate, dependant on experimental evidence from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' improve, that means 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 can be part 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 described within the literature in persons affected 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 provided submitted documents (SCVs), or due to an update that ClinVar created on the variant for instance introducing HGVS expressions or simply a rs number.
The worldwide minimal allele frequency calculated from the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be different from the allele represented by this VCV file.
The situation with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the afflicted status and allele origin of people noticed with this particular variant.
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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to take into account distributing that details to ClinVar.
The publishing organization for this submitted (SCV) file. This column also involves the SCV accession and Variation variety, the date this SCV 1st appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this area. Be sure to evaluation the LitVar effects cautiously in your variant of desire. Report very last current Could 19, 2024
Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.
Stars signify the combination critique status, or the extent of overview supporting the aggregate germline classification for this VCV history.
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