5 Easy Facts About thr777 Described
5 Easy Facts About thr777 Described
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The impact from the variant on RNA or protein purpose, dependant on experimental proof from submitters.
This sequence improve has an effect on codon 777 from the GAA mRNA. It is a 'silent' change, that means that it doesn't change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be Element of the consensus splice website for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described inside the literature in individuals influenced with GAA-similar ailments.
There is absolutely no functional proof in ClinVar for this variation. When you have created practical data for this variation, make sure you consider publishing that details to ClinVar.
The global slight allele frequency calculated through the a thousand Genomes Job. The minor allele at this spot is indicated in parentheses and should be different with the allele represented by this VCV file.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, be sure to take into consideration publishing that information to ClinVar.
The distributing organization for this submitted (SCV) report. This column also includes the SCV accession and Edition variety, the day this SCV thr777 1st appeared in ClinVar, as well as the day that this SCV was previous updated in ClinVar.
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Stars stand for the evaluate standing, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.