The effect of your variant on RNA or protein purpose, based upon experimental evidence from submitters.
This sequence alter impacts codon 777 with the GAA mRNA. This is a 'silent' transform, 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 16, which is A part 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 reported while in the literature in people today impacted with GAA-linked conditions.
This date represents the last time this VCV report was current. The update could be due to an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar produced on the variant such as incorporating HGVS expressions or maybe a rs selection.
The worldwide insignificant allele frequency calculated from the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct in the allele represented by this VCV record.
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The aggregate germline classification for this variant, normally for your monogenic or Mendelian ailment as within the ACMG/AMP suggestions, or for response into a drug. This price is calculated by NCBI dependant on data from submitters. Read our guidelines for calculating the aggregate classification.
Go through our principles for calculating the assessment status. This column also features a url on the submitter’s assertion criteria if provided, and the gathering strategy.
The amount of variants in ClinVar which are contained in just this gene, that has a website link to see the listing of variants.
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Aberrant 5' splice websites in human illness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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The amount of variants in ClinVar for this gene, which includes scaled-down variants in the gene and bigger CNVs that overlap or entirely contain the gene.
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