Little Known Facts About thr777.
Little Known Facts About thr777.
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence changes on RNA splicing counsel this variant may possibly make or bolster a splice internet site. In summary, the offered proof is at the moment inadequate to find out the job of this variant in ailment. Thus, it's been classified for a Variant of Unsure Significance.
This sequence modify affects codon 777 of your GAA mRNA. It's a 'silent' improve, indicating that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which is A part of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported in the literature in people today impacted with GAA-similar problems.
There's no useful evidence in ClinVar for this variation. In case you have produced practical info for this variation, remember to contemplate submitting that information to ClinVar.
The worldwide insignificant allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV file.
The affliction to the classification, provided by the submitter for this submitted (SCV) report. This column also involves the affected standing and allele origin of people observed using this variant.
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There aren't any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, be sure to contemplate distributing that information to ClinVar.
The quantity of variants in ClinVar which have been contained within this gene, having a hyperlink to check out the list of variants.
These citations are determined by LitVar using the rs range, so They might consist of citations for multiple variant at this locale. You should review the LitVar benefits diligently to your variant of fascination. File last up to thr777 date May 19, 2024
Aberrant five' splice websites in human condition genes: mutation pattern, nucleotide structure and comparison of computational resources that predict their utilization.
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Stars symbolize the evaluation position, or the level of review supporting the submitted (SCV) history. This worth is calculated by NCBI determined by info in the submitter.