The 5-Second Trick For link thr777
The 5-Second Trick For link thr777
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Remark: This sequence transform influences codon 777 in the GAA mRNA. It's a 'silent' adjust, which means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Element of the consensus splice web page for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented within the literature in individuals influenced with GAA-connected situations.
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These citations are recognized by LitVar utilizing the rs number, so They might consist of citations for more than one variant at this locale. Remember to evaluate the LitVar final results diligently to your variant of interest. File past updated May well 19, 2024
The worldwide minor allele frequency calculated with the a thousand Genomes Project. The minor allele at this site is indicated in parentheses and may be diverse with the allele represented by this VCV document.
This column involves more info supporting the classification, such as citations, the comment on classification, and specific proof supplied as observations on the variant via the submitter.
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The submitting organization for this submitted (SCV) history. This column also features the SCV accession and Model variety, the date this SCV first appeared in ClinVar, and also the day this SCV was previous updated in ClinVar.
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There won't be any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, be sure to take into consideration publishing that information and facts to ClinVar.
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03%). This variant hasn't been noted in the literature in men and women affected with GAA-similar problems. ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively popular reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the influence of sequence modifications on RNA splicing advise this variant may possibly create or bolster a splice web page. In summary, the accessible evidence is now insufficient to find out the job of the variant in disorder. Consequently, it has been labeled for a Variant of Unsure Importance. OK