thr777 Things To Know Before You Buy
thr777 Things To Know Before You Buy
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This value is calculated by NCBI based upon information from submitters. Examine our guidelines for calculating the critique standing. The volume of submissions which contribute to this critique position is shown in parentheses.
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These citations are discovered by LitVar utilizing the rs range, so they may involve citations for more than one variant at this site. Make sure you assessment the LitVar results meticulously for your variant of fascination. History final current Could 19, 2024
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The submitting organization for this submitted (SCV) history. This column also features the SCV accession and Model variety, the date this SCV first appeared in ClinVar, and also the day that this SCV was final current in ClinVar.
This column contains more slot thr777 info supporting the classification, which includes citations, the touch upon classification, and detailed evidence supplied as observations on the variant via the submitter.
The number of variants in ClinVar for this gene, which include smaller variants inside the gene and bigger CNVs that overlap or fully have the gene.
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This sequence improve influences codon 777 with the GAA mRNA. It is just a 'silent' transform, indicating that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which can be Portion of the consensus splice website for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been reported during the literature in folks affected with GAA-similar ailments.
Read through our regulations for calculating the review status. This column also includes a link towards the submitter’s assertion requirements if presented, and the collection strategy.