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 comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing advise this variant may well build or fortify a splice site. In summary, the obtainable evidence is presently insufficient to ascertain the job of the variant in ailment. For that reason, it has been labeled to be a Variant of Uncertain Significance.
This sequence modify affects codon 777 on the GAA mRNA. It's a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in men and women afflicted with GAA-associated ailments.
There is absolutely no functional proof in ClinVar for this variation. For those who have produced practical knowledge for this variation, remember to look at distributing that knowledge to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Job. The minor allele at this place is indicated in parentheses and may be different within the allele represented by this VCV report.
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There won't be any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about submitting that information and facts to ClinVar.
The quantity of variants in ClinVar that happen to be contained in just this gene, which has a connection to view the listing of variants.
These citations are determined by LitVar utilizing the rs amount, so They could include things like citations for more than one variant at this location. Make sure you review the LitVar benefits cautiously in your variant of interest. Report last updated Might 19, 2024
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Stars signify the mixture overview status, or the extent of overview supporting the aggregate germline classification for this VCV history.
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