Detailed Notes on thr777
Detailed Notes on thr777
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence changes on RNA splicing suggest this variant may perhaps produce or reinforce a splice internet site. In summary, the out there proof is at present insufficient to determine the function of the variant in sickness. Hence, it's been categorized as being a Variant of Unsure Importance.
This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' change, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related situations.
This day signifies the final time this VCV record was updated. The update could possibly be as a result of an update to among the list of included submitted records (SCVs), or because of an update that ClinVar produced for the variant for instance incorporating HGVS expressions or simply a rs amount.
This column features more details supporting the classification, together with citations, the touch upon classification, and specific evidence provided as observations with the variant through the submitter.
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Examine our policies for calculating the overview standing. This column also features a connection to your submitter’s assertion standards if offered, and the gathering system.
The quantity of variants in ClinVar which can be contained inside of this gene, having a connection to watch the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for more than one variant at this site. Remember to review the LitVar final results carefully to your variant of fascination. thr777 Record final up-to-date May perhaps 19, 2024
Aberrant 5' splice internet sites in human disease genes: mutation sample, nucleotide composition and comparison of computational applications that forecast their utilization.
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The volume of variants in ClinVar for this gene, which includes smaller variants inside the gene and bigger CNVs that overlap or completely comprise the gene.
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