The smart Trick of thr777 That No One is Discussing
The smart Trick of thr777 That No One is Discussing
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing suggest this variant may produce or reinforce a splice web site. In summary, the out there proof is at this time inadequate to find out the function of the variant in disorder. Thus, it has been classified as a Variant of Unsure Significance.
This sequence improve affects codon 777 in the GAA mRNA. It is just a 'silent' change, which means that it does not change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Element of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in people influenced with GAA-similar disorders.
There isn't any functional evidence in ClinVar for this variation. If you have generated purposeful details for this variation, be sure to take into consideration distributing that knowledge to ClinVar.
This column includes additional information supporting the classification, like citations, the comment on classification, and specific evidence furnished as observations on the variant from the submitter.
The ailment to the classification, provided by the submitter for this submitted (SCV) file. This column also consists of the influenced position and allele origin of individuals observed using this type of variant.
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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you think about submitting that information to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to watch the listing of variants.
These citations are recognized by LitVar utilizing the rs number, so They might involve citations for more than one variant at this spot. Please assessment the LitVar results meticulously for your personal variant of interest. File very last current Might 19, 2024
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Stars symbolize the combination critique standing, or the extent of overview supporting the aggregate germline classification for this VCV history.
The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or absolutely have the gene.
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Stars symbolize the assessment status, or the extent of critique supporting the submitted (SCV) report. This worth is calculated by NCBI depending on info in the submitter.