The number of variants in ClinVar which are contained in just this gene, which has a link to watch the list of variants.
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The amount of variants in ClinVar for this gene, like scaled-down variants in the gene and larger CNVs that overlap or totally incorporate the gene.
ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence adjustments on RNA splicing suggest this variant might build or bolster a splice website. In summary, the out there evidence is now inadequate to determine the job of this variant in disorder. As a result, it's been categorized for a Variant of Uncertain Significance. Okay
These citations are determined by LitVar using the rs variety, so They could incorporate citations for multiple variant at this place. Be sure to evaluation the LitVar final results diligently to your variant of desire. Record previous current May 19, 2024
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This sequence transform influences codon 777 with the GAA mRNA. It is just a 'silent' alter, that 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, and that is Element of the consensus splice web page for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in people today influenced with GAA-relevant situations.
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