Everything about thr777
Everything about thr777
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Remark: This sequence transform impacts codon 777 with the GAA mRNA. This is a 'silent' alter, meaning that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's A part of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented within the literature in persons impacted with GAA-similar situations.
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the effect of sequence modifications on RNA splicing recommend this variant may possibly generate or reinforce a splice web-site. In summary, the out there proof is at this time inadequate to ascertain the purpose of this variant in disease. As a result, it's been categorized to be a Variant of Uncertain Importance. (much less)
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There's no practical evidence in ClinVar for this variation. If you have created purposeful details for this variation, be sure to take into consideration distributing that knowledge to ClinVar.
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The aggregate germline classification for this variant, commonly for any monogenic or Mendelian ailment as from the ACMG/AMP recommendations, or for reaction to some drug. This price is calculated by NCBI based upon information from submitters. Browse our principles for calculating the combination classification.
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