The smart Trick of thr777 That No One is Discussing
The smart Trick of thr777 That No One is Discussing
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The effect of the variant on RNA or protein function, depending on experimental proof from submitters.
This sequence modify affects codon 777 in the GAA mRNA. It is a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice web site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related problems.
There is not any purposeful proof in ClinVar for this variation. When you've got created functional information for this variation, you should think about submitting that info to ClinVar.
This column incorporates additional information supporting the classification, which includes citations, the touch upon classification, and specific evidence delivered as observations of the variant through the submitter.
The situation for that classification, provided by the submitter for this submitted (SCV) history. This column also includes the influenced status and allele origin of individuals noticed using this variant.
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Read through our policies for calculating the assessment status. This column also features a backlink towards the submitter’s assertion criteria if delivered, and the gathering system.
The distributing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
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The quantity 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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