Getting My login thr777 To Work
Getting My login thr777 To Work
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This benefit is calculated by NCBI based upon info from submitters. Study our regulations for calculating the review standing. The amount of submissions which contribute to this evaluate status is demonstrated in parentheses.
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So this day could possibly be unique from the date of the “newest submission” claimed at the best of the web site. Assistance Abide by NCBI
These citations are recognized by LitVar using the rs variety, so They could include citations for more than one variant at this area. Please assessment the LitVar benefits diligently for the variant of curiosity. File last updated May possibly twelve, 2024
The submitting Corporation for this submitted (SCV) report. This column also incorporates the SCV accession and Model selection, the day this SCV 1st appeared in ClinVar, as well as the date this SCV was previous updated in ClinVar.
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The submitting Firm for this submitted (SCV) report. This column also features the SCV accession and Model range, the date this SCV initial appeared in ClinVar, and also slot thr777 the day that this SCV was final up to date in ClinVar.
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This sequence change affects codon 777 from the GAA mRNA. It's a 'silent' modify, indicating 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 happens to be Portion of the consensus splice site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed from the literature in persons influenced with GAA-relevant situations.
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