Detailed Notes on thr777
Detailed Notes on thr777
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The impact from the variant on RNA or protein function, depending on experimental proof from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' modify, meaning that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in people today impacted with GAA-relevant conditions.
This date represents the last time this VCV report was current. The update might be as a consequence of an update to among the provided submitted data (SCVs), or as a consequence of an update that ClinVar produced into the variant for example including HGVS expressions or maybe a rs variety.
This column involves more details supporting the classification, such as citations, the touch upon classification, and in depth proof presented as observations from the variant via the submitter.
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The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as inside the ACMG/AMP tips, or for reaction into a drug. This price is calculated by NCBI dependant on data from submitters. Read our policies for calculating the mixture classification.
Go through our regulations for calculating the critique standing. This column also includes a url on the submitter’s assertion criteria if offered, and the collection method.
The submitting Group for this submitted (SCV) document. This column also contains the SCV accession and version amount, the day this SCV very first appeared in ClinVar, and also the day that this SCV was past up to date in ClinVar.
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Aberrant five' splice internet sites in human condition genes: mutation sample, nucleotide structure and comparison of computational instruments that forecast their utilization.
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The amount of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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Stars signify the evaluation position, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI according to information from the submitter.