thr777 Options
thr777 Options
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the influence of sequence adjustments on RNA splicing counsel that this variant might develop or bolster a splice web site. In summary, the accessible evidence is at the moment inadequate to ascertain the job of the variant in ailment. Consequently, it's been categorised as being a Variant of Unsure Importance.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Portion of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in people influenced with GAA-related situations.
This day signifies the final time this VCV record was up to date. The update may very well be on account of an update to one of the integrated submitted information (SCVs), or resulting from an update that ClinVar built to the variant like including HGVS expressions or possibly a rs range.
The worldwide minor allele frequency calculated from the a thousand Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be distinct in the allele represented by this VCV document.
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The volume of variants in ClinVar that are contained within this gene, which has a hyperlink to perspective the list of variants.
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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or absolutely have the gene.
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