The result in the variant on RNA or protein perform, depending on experimental evidence from submitters.
This sequence adjust affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Section of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been reported during the literature in men and women affected with GAA-connected disorders.
There is absolutely no useful evidence in ClinVar for this variation. For those who have generated functional details for this variation, be sure to take into account distributing that info to ClinVar.
This column consists of more info supporting the classification, which include citations, the comment on classification, and thorough evidence delivered as observations on the variant through the submitter.
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Browse our procedures for calculating the evaluate standing. This column also includes a link to the submitter’s assertion conditions if furnished, and the collection technique.
The volume of variants in ClinVar which have been contained within just this gene, by using a website link to view 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 locale. Make sure you critique the LitVar outcomes thoroughly for the variant of fascination. History previous up-to-date May 19, 2024
Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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Stars signify the evaluation status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge from your submitter.