Detailed Notes on thr777
Detailed Notes on thr777
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The impact in the variant on RNA or protein purpose, determined by experimental evidence from submitters.
This sequence modify affects codon 777 of your GAA mRNA. This is a 'silent' modify, this means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Component of the consensus splice internet site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in folks impacted with GAA-associated disorders.
This day signifies the last time this VCV file was up-to-date. The update might be due to an update to one of many integrated submitted information (SCVs), or on account of an update that ClinVar built on the variant such as adding HGVS expressions or maybe a rs quantity.
The worldwide slight allele frequency calculated with the a thousand Genomes Challenge. The slight allele at this area is indicated in parentheses and may be diverse through the allele represented by this VCV file.
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Go through our principles for calculating the evaluation standing. This column also features a backlink on the submitter’s assertion criteria if delivered, and the collection system.
The number of variants in ClinVar that happen to be contained inside this gene, that has a website link to view the list of variants.
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Stars symbolize the overview standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI based on knowledge within the submitter.