The result in the variant on RNA or protein operate, dependant on experimental proof from submitters.
This sequence modify has an effect on codon 777 in the GAA mRNA. It is a 'silent' transform, which 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 16, and that is Component of the consensus splice internet site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in folks influenced with GAA-connected disorders.
This date signifies the last time this VCV file was updated. The update could be because of an update to among the integrated submitted documents (SCVs), or as a consequence of an update that ClinVar designed to the variant including introducing HGVS expressions or perhaps a rs amount.
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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The combination germline classification for this variant, usually for the monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
Read our rules for calculating the review position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection method.
The number of variants in ClinVar which are contained in this gene, using a website link to view the listing of variants.
These citations are identified by LitVar using the rs number, so They might involve citations for more than one variant at this site. Please overview the LitVar results meticulously for your variant of curiosity. File past updated Could 19, 2024
Aberrant five' splice websites in human disease genes: mutation pattern, nucleotide framework and comparison of computational tools that predict their utilization.
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The quantity of variants in ClinVar for this gene, which include more compact variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.
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Stars stand for the assessment standing, or the extent of review supporting the submitted (SCV) file. This price is calculated by NCBI based upon data through the submitter.