A Secret Weapon For login thr777
A Secret Weapon For login thr777
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Comment: This sequence modify impacts codon 777 from the GAA mRNA. It is a 'silent' transform, that means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported from the literature in folks afflicted with GAA-related ailments.
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The global minimal allele frequency calculated by the one thousand Genomes Job. The minor allele at this area is indicated in parentheses and should be different from the allele represented by this VCV document.
The aggregate germline classification for this variant, generally for a monogenic or Mendelian problem as in the ACMG/AMP suggestions, or for reaction to a drug. This worth is calculated by NCBI based upon data from submitters. Go through our procedures for calculating the combination classification.
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The quantity of variants in ClinVar for this gene, which includes lesser variants within slot thr777 the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars symbolize the review standing, or the level of overview supporting the submitted (SCV) report. This worth is calculated by NCBI based on facts in the submitter.
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The mixture germline classification for this variant, usually for any monogenic or Mendelian disorder as from the ACMG/AMP suggestions, or for reaction to some drug. This price is calculated by NCBI according to facts from submitters. Study our regulations for calculating the aggregate classification.
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Browse our guidelines for calculating the overview position. This column also features a link into the submitter’s assertion criteria if offered, and the collection system.