The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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The result in the variant on RNA or protein operate, depending on experimental evidence from submitters.
This sequence transform impacts codon 777 of your GAA mRNA. It is just a 'silent' adjust, indicating that it doesn't alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Component of the consensus splice web-site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed from the literature in men and women afflicted with GAA-associated conditions.
This date represents the final time this VCV report was updated. The update might be as a result of an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced on the variant which include introducing HGVS expressions or perhaps a rs amount.
The worldwide minimal allele frequency calculated with the 1000 Genomes Job. The slight allele at this spot is indicated in parentheses and may be distinct in the allele represented by this VCV history.
The ailment for that classification, furnished by the submitter for this submitted (SCV) document. This column also contains the impacted status and allele origin of people noticed with this particular variant.
The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as inside the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI based on details from submitters. Examine our guidelines for calculating the combination classification.
Examine our procedures for calculating the evaluate position. This column also includes a hyperlink towards the submitter’s assertion criteria if presented, and the collection technique.
The number of variants in ClinVar thr777 which are contained within this gene, which has a backlink to check out the listing of variants.
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Stars characterize the review standing, or the level of overview supporting the submitted (SCV) report. This worth is calculated by NCBI determined by info from your submitter.