thr777 No Further a Mystery
thr777 No Further a Mystery
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The effect in the variant on RNA or protein purpose, dependant on experimental proof from submitters.
This sequence alter affects codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is part of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described from the literature in people influenced with GAA-related disorders.
This date represents the last time this VCV report was up to date. The update could possibly be on account of an update to on the list of involved submitted documents (SCVs), or as a consequence of an update that ClinVar produced into the variant like introducing HGVS expressions or perhaps a rs amount.
The worldwide minor allele frequency calculated from the a thousand Genomes Task. The minor allele at this location is indicated in parentheses and could be unique within the allele represented by this VCV history.
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Read our guidelines for calculating the evaluate position. This column also features a backlink to your submitter’s assertion standards if furnished, and the collection approach.
The number of variants in ClinVar which are contained inside of this gene, using a connection to see the listing of variants.
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Stars depict the aggregate review position, or the level of critique supporting the thr777 mixture germline classification for this VCV document.
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