Getting My login thr777 To Work
Getting My login thr777 To Work
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Comment: This sequence modify affects codon 777 of the GAA mRNA. It is just a 'silent' adjust, that means that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Component of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been described within the literature in people today influenced with GAA-related problems.
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The quantity of variants in ClinVar for this gene, such as smaller sized variants within the gene and larger CNVs that overlap or absolutely comprise the gene.
ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the outcome of sequence variations on RNA splicing recommend this variant may produce or improve a splice web page. In summary, the available evidence is at present insufficient to ascertain the position of this variant in disease. Hence, it's been categorized as being a Variant of Unsure Significance. Alright
These citations are recognized by LitVar utilizing the rs variety, so they may contain citations for more than one variant at this location. Be sure to overview the LitVar benefits diligently in your variant of curiosity. Report final up-to-date Might 19, 2024
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The publishing Group for this submitted (SCV) report. This column also involves the SCV accession and Model variety, the date this SCV initial appeared in ClinVar, and the day that this SCV was last current in ClinVar.
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