The impact of the variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence change influences codon 777 in the GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in persons affected with GAA-connected disorders.
This date represents the last time this VCV file was up-to-date. The update may be resulting from an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for example incorporating HGVS expressions or maybe a rs selection.
This column incorporates additional information supporting the classification, which includes citations, the touch upon classification, and thorough evidence furnished as observations in the variant from the submitter.
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The combination germline classification for this variant, typically to get a monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.
Examine our policies for calculating the overview status. This column also features a connection on thr777 the submitter’s assertion requirements if furnished, and the collection technique.
The number of variants in ClinVar that are contained in just this gene, by using a website link to view the listing of variants.
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Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars signify the aggregate review standing, or the level of review supporting the combination germline classification for this VCV file.
The number of variants in ClinVar for this gene, such as smaller sized variants in the gene and bigger CNVs that overlap or thoroughly have the gene.
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