Not known Factual Statements About link thr777
Not known Factual Statements About link thr777
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Comment: This sequence improve influences codon 777 in the GAA mRNA. It's a 'silent' change, indicating that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon 16, that is A part of the consensus splice website for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been documented from the literature in persons influenced with GAA-connected circumstances.
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The combination germline classification for this variant, normally for any monogenic or Mendelian ailment as inside the ACMG/AMP rules, or for response into a drug. This benefit is calculated by NCBI according to facts from submitters. Read our principles for calculating the mixture classification.
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The submitting organization for this submitted (SCV) history. This column also features the SCV accession and Model variety, the date this SCV initially appeared in ClinVar, plus the date this SCV was very last up-to-date in ClinVar.
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There are no citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, you should take into account submitting that info to ClinVar.
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This price is calculated by NCBI according to facts from submitters. Study our policies for calculating the review standing. The quantity of submissions which lead to this evaluate status is proven in parentheses.