The result in the variant on RNA or protein perform, determined by experimental evidence from submitters.

This sequence alter impacts codon 777 of your GAA mRNA. This is a 'silent' modify, which means that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, that's Component of the consensus splice web-site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in men and women afflicted with GAA-connected situations.

This date represents the final time this VCV document was up-to-date. The update might be due to an update to one of many involved submitted documents (SCVs), or because of an update that ClinVar manufactured to your variant which include adding HGVS expressions or possibly a rs range.

The worldwide insignificant allele frequency calculated via the one thousand Genomes Task. The small allele at this place is indicated in parentheses and may be distinctive within the allele represented by this VCV report.

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The combination germline classification for this variant, typically for any monogenic or Mendelian problem as during the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI depending on info from submitters. Examine our procedures for calculating the combination classification.

Read thr777 through our procedures for calculating the review position. This column also features a connection to your submitter’s assertion standards if presented, and the collection process.

The volume of variants in ClinVar that happen to be contained in this gene, using a website link to see the listing of variants.

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Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.

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The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or absolutely have the gene.

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