The smart Trick of thr777 That Nobody is Discussing
The smart Trick of thr777 That Nobody is Discussing
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This sequence adjust impacts codon 777 of your GAA mRNA. It is just a 'silent' modify, meaning that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be part of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in men and women affected with GAA-relevant circumstances.
This column features more details supporting the classification, like citations, the comment on classification, and in-depth proof delivered as observations of your variant by the submitter.
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Stars signify the mixture evaluate standing, or the level of critique supporting the aggregate germline classification for this VCV history.
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The publishing Corporation for this submitted (SCV) history. This column also includes the SCV accession and Variation range, the day this SCV initially appeared in ClinVar, as well as day that this SCV was very last up-to-date in ClinVar.
The impact of your variant on RNA or protein operate, based upon experimental evidence from submitters.
The number of variants in ClinVar which can be contained within just this gene, having a backlink to view the listing of variants.
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The worldwide insignificant allele frequency calculated from the 1000 Genomes Undertaking. The slight allele at this spot is indicated in parentheses and should be unique with the allele represented by this VCV history.
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