The 2-Minute Rule for thr777
The 2-Minute Rule for thr777
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The result in the variant on RNA or protein perform, depending on experimental evidence from submitters.
This sequence change influences codon 777 from the GAA mRNA. It is just 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, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons affected with GAA-connected disorders.
There is no purposeful proof in ClinVar for this variation. When you've got created useful facts for this variation, you should look at distributing that knowledge to ClinVar.
The worldwide small allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and could be distinctive with the allele represented by this VCV file.
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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, you should look at distributing that data to ClinVar.
The amount of variants in ClinVar which are contained in just this gene, that has a website link to see the listing of variants.
These citations are thr777 discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this place. You should evaluation the LitVar benefits carefully to your variant of desire. History final up to date May well 19, 2024
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Stars signify the combination critique standing, or the extent of overview supporting the aggregate germline classification for this VCV report.
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