The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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The effect of your variant on RNA or protein functionality, according to experimental proof from submitters.
This sequence transform affects codon 777 with the GAA mRNA. This is a 'silent' improve, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, which is 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 men and women afflicted with GAA-associated ailments.
There isn't a useful proof in ClinVar for this variation. Should you have produced functional data for this variation, please think about submitting that details to ClinVar.
The worldwide slight allele frequency calculated with the 1000 Genomes Venture. The minimal allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the influenced position and allele origin of individuals noticed using this type of variant.
The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to a drug. This worth is calculated by NCBI dependant on knowledge from submitters. Read our guidelines for calculating the aggregate classification.
There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please consider publishing that information and facts to ClinVar.
The publishing Business for this submitted (SCV) document. This column also consists of the SCV accession and Model number, the day this SCV 1st appeared in ClinVar, and also the date that this SCV was previous updated in ClinVar.
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Aberrant five' splice sites in human disease genes: mutation pattern, nucleotide framework and comparison of computational tools that predict their utilization.
Stars stand for the aggregate assessment thr777 status, or the level of evaluation supporting the combination germline classification for this VCV report.
The number of variants in ClinVar for this gene, such as smaller variants throughout the gene and larger CNVs that overlap or entirely comprise the gene.
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Stars symbolize the evaluation status, or the extent of assessment supporting the submitted (SCV) document. This value is calculated by NCBI dependant on details through the submitter.