The impact of the variant on RNA or protein functionality, based upon experimental evidence from submitters.
This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant conditions.
This date represents the last time this VCV record was up to date. The update may very well be because of an update to one of many incorporated submitted information (SCVs), or as a result of an update that ClinVar created towards the variant like adding HGVS expressions or perhaps a rs quantity.
This column consists of more info supporting the classification, which includes citations, the touch upon classification, and specific evidence delivered as observations on the variant from the submitter.
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The combination germline classification for this variant, ordinarily for a monogenic or Mendelian disorder as within the ACMG/AMP tips, or for response to your drug. This price is calculated by NCBI according to information from submitters. Read through our procedures for calculating the combination classification.
Read our procedures for calculating the evaluation position. This column also features a website link for the submitter’s assertion criteria if offered, and the collection process.
The quantity of variants in ClinVar which thr777 might be contained inside of this gene, having a website link to see the listing of variants.
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Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
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