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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 widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence variations on RNA splicing propose this variant might develop or bolster a splice internet site. In summary, the offered evidence is at the moment inadequate to find out the position of the variant in illness. Hence, it's been labeled for a Variant of Uncertain Significance. Okay
So this date could be diverse with the day of your “most recent submission” claimed at the best of the web site. Help Adhere to NCBI
These citations are determined by LitVar utilizing the rs number, so they may contain citations for multiple variant at this spot. Be sure to evaluate the LitVar results thoroughly for your personal variant of desire. Record very last current Might 12, 2024
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Stars characterize the critique status, or the extent of overview supporting the submitted (SCV) document. This benefit is calculated by NCBI based upon knowledge through the submitter.
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This sequence alter impacts codon 777 with the GAA mRNA. It's really a 'silent' change, meaning that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be part of the consensus splice web page for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been reported during the literature in people afflicted with GAA-linked situations.
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