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The amount of variants in ClinVar that happen to be contained in just this gene, with a hyperlink to perspective the list of variants.
Aberrant five' splice internet sites in human disorder genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
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Stars depict the combination overview status, or the extent of evaluation supporting the combination germline classification for this VCV file.
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03%). This variant hasn't been noted inside the literature in persons afflicted with GAA-connected problems. ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the result of sequence variations on RNA splicing recommend that this variant may well create or bolster a splice website. In summary, the readily available evidence is at present insufficient to ascertain the position of the variant in ailment. Therefore, it's been categorised being a Variant of Unsure Significance. Okay
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These citations are determined by LitVar using the rs amount, so they may consist of citations for more than one variant at this locale. Make sure you evaluation the LitVar results diligently for your personal variant of fascination. File final current May well 12, 2024
Stars characterize the critique status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI based on facts in the submitter.
The global slight allele frequency calculated because of the a thousand Genomes Project. The minor allele at this area is indicated in parentheses and will be diverse with the allele represented by this VCV history.
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