The impact on the variant on RNA or protein operate, based upon experimental evidence from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, this means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in folks influenced with GAA-similar ailments.
There is no functional proof in ClinVar for this variation. If you have created useful facts for this variation, be sure to take into account submitting that knowledge to ClinVar.
The global small allele frequency calculated from the a thousand Genomes Job. The insignificant allele at this place is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
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There are no citations for germline classification thr777 of the variant in ClinVar. If you know of citations for this variation, please think about submitting that information and facts to ClinVar.
The quantity of variants in ClinVar which might be contained inside this gene, with a backlink to look at the listing of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this spot. Make sure you critique the LitVar outcomes thoroughly for the variant of fascination. History last up to date May well 19, 2024
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Stars signify the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.
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Stars depict the overview status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by info from your submitter.