Facts About thr777 Revealed
Facts About thr777 Revealed
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the effect of sequence alterations on RNA splicing advise this variant may well build or fortify a splice web-site. In summary, the accessible proof is currently insufficient to ascertain the job of the variant in ailment. Thus, it has been labeled as a Variant of Unsure Significance.
This sequence transform affects codon 777 with the GAA mRNA. This is a 'silent' change, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice web site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-associated problems.
There is no functional proof in ClinVar for this variation. If you have created useful facts for this variation, be sure to take into consideration publishing that facts to ClinVar.
The global small allele frequency calculated from the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be different in the allele represented by this VCV history.
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Read through our policies for calculating the assessment status. This column also features a backlink on the submitter’s assertion criteria if provided, and the gathering approach.
The amount of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.
These citations are determined by LitVar utilizing the rs quantity, so they may consist of citations for more than one variant at this locale. Remember to evaluate the LitVar final results diligently in your variant of fascination. Record final up-to-date May well 19, 2024
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