The thr777 Diaries
The thr777 Diaries
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence variations on RNA splicing propose this variant may perhaps create or reinforce a splice site. In summary, the readily available proof is at the moment insufficient to find out the job of this variant in disorder. Hence, it's been labeled for a Variant of Uncertain Significance.
This sequence change influences codon 777 of the GAA mRNA. It's really a 'silent' alter, meaning that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Section of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in folks afflicted with GAA-relevant ailments.
There isn't any purposeful proof in ClinVar for this variation. If you have created purposeful data for this variation, remember to look at publishing that info to ClinVar.
The worldwide insignificant allele frequency calculated with the one thousand Genomes Job. The small allele at this spot is indicated in parentheses and will be diverse through the allele represented by this VCV history.
The condition for the classification, furnished by the submitter for this submitted (SCV) record. This column also includes the afflicted status and allele origin of individuals observed using this type of variant.
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There are no citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, please take into account distributing that data to ClinVar.
The amount of variants in ClinVar that are contained within this gene, using a url to perspective the listing of variants.
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Aberrant 5' splice web-sites in human illness genes: mutation sample, nucleotide structure and comparison of computational tools that predict their utilization.
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