Facts About link thr777 Revealed
Facts About link thr777 Revealed
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Stars symbolize the review standing, or the extent of evaluate supporting the submitted (SCV) document. This price is calculated by NCBI according to facts in the submitter.
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the result of sequence adjustments on RNA splicing propose that this variant may well develop or strengthen a splice site. In summary, the out there evidence is now insufficient to determine the purpose of this variant in ailment. Therefore, it has been labeled as being a Variant of Uncertain Importance. Alright
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These citations are discovered by LitVar utilizing the rs number, so they may contain citations for more than one variant at this area. Remember to overview the LitVar effects diligently on your variant of fascination. File previous up to date Could 12, 2024
The publishing organization for this submitted (SCV) record. This column also includes the SCV accession and Variation range, the date this SCV very first appeared in ClinVar, and also the day this SCV was final up to date in ClinVar.
This column consists of additional information supporting the classification, including citations, the comment on classification, and in depth evidence furnished as observations of your variant from the submitter.
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The amount of variants in ClinVar that happen to be contained in just this gene, with a link to see the list of variants.
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This sequence transform influences codon 777 on the GAA mRNA. This is a 'silent' adjust, that means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice web page for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described while in the literature in folks influenced with GAA-associated conditions.
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