Details, Fiction and thr777
Details, Fiction and thr777
Blog Article
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the impact of sequence changes on RNA splicing recommend that this variant may possibly build or improve a splice web-site. In summary, the readily available proof is at this time inadequate to determine the role of this variant in condition. Consequently, it has been categorised to be a Variant of Unsure Importance.
This sequence modify has an effect on codon 777 in the GAA mRNA. It is a 'silent' transform, which means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, that's Element of the consensus splice web page for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported within the literature in people affected with GAA-relevant disorders.
This day represents the last time this VCV file was current. The update may be due to an update to on the list of integrated submitted information (SCVs), or because of an update that ClinVar created on the variant like introducing HGVS expressions or maybe a rs selection.
This column features more details supporting the classification, like citations, the touch upon classification, and in depth proof furnished as observations in the variant from the submitter.
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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, you should take into account publishing that information and facts to ClinVar.
The number of variants in ClinVar which have been contained inside this gene, with a connection to watch the list of variants.
These citations are identified by LitVar using the rs range, so they may incorporate citations for more than one variant at this spot. Please assessment the LitVar effects cautiously in your variant of desire. Report final up to date Might 19, 2024
Aberrant 5' splice web pages in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
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The number of variants in ClinVar for this gene, like scaled-down variants within the gene and larger CNVs that overlap or thoroughly consist of the gene.
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