thr777 Can Be Fun For Anyone
thr777 Can Be Fun For Anyone
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The effect of the variant on RNA or protein purpose, based on experimental proof from submitters.
This sequence modify influences codon 777 with the GAA mRNA. It's a 'silent' transform, that means that it doesn't alter the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Element of the consensus splice website for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described in the literature in men and women influenced with GAA-similar circumstances.
This date represents the final time this VCV document was updated. The update can be as a consequence of an update to one of many bundled submitted documents (SCVs), or as a result of an update that ClinVar made towards the variant such as adding HGVS expressions or even a rs amount.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this locale is indicated in parentheses and should be various in the allele represented by this VCV history.
The ailment to the classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of people noticed with this variant.
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There are no citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, be sure to think about publishing that information to ClinVar.
The number of variants in ClinVar which have been contained in just this gene, by using a website link to view the listing of variants.
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Aberrant five' splice web sites in human condition thr777 genes: mutation sample, nucleotide construction and comparison of computational instruments that predict their utilization.
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The volume of variants in ClinVar for this gene, like smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.
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Stars characterize the critique standing, or the level of review supporting the submitted (SCV) record. This worth is calculated by NCBI based on details from your submitter.