The impact of the variant on RNA or protein functionality, according to experimental proof from submitters.
This sequence improve influences codon 777 from the GAA mRNA. It is just a 'silent' modify, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside the literature in people today influenced with GAA-associated disorders.
This day represents the final time this VCV record was current. The update could possibly be on account of an update to one of the incorporated submitted data (SCVs), or because of an update that ClinVar made on the variant for instance introducing HGVS expressions or a rs number.
The global insignificant allele frequency calculated via the one thousand Genomes Task. The minor allele at this site is indicated in parentheses and will be different through the allele represented by this VCV file.
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The aggregate germline classification for this variant, usually for any monogenic or Mendelian disorder as within the ACMG/AMP tips, or for reaction to a drug. This price is calculated by NCBI determined by info from submitters. Read through our procedures for calculating the aggregate classification.
There aren't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, remember to take into consideration publishing that information and facts to ClinVar.
The submitting Corporation for this submitted (SCV) file. This column also contains the SCV accession and version range, the date this SCV initially appeared in ClinVar, along with the day that this SCV was past current in ClinVar.
These citations are determined by LitVar utilizing the rs amount, so they may incorporate citations for more than one variant at this place. Please overview the LitVar success very carefully for the variant of desire. Record last updated May possibly 19, 2024
Aberrant five' splice web sites in human disorder genes: mutation sample, nucleotide structure and comparison of computational tools that forecast their utilization.
Stars depict the aggregate review status, or the level of critique supporting the aggregate germline classification for this VCV file.
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Stars depict the review position, or the level of assessment supporting the submitted (SCV) report. This benefit is calculated by NCBI depending on info in the submitter.