The Basic Principles Of login thr777
The Basic Principles Of login thr777
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Remark: This sequence adjust influences codon 777 of the GAA mRNA. It is just a 'silent' change, which means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice web-site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described inside the literature in individuals afflicted with GAA-connected conditions.
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These citations are identified by LitVar utilizing the rs selection, so They might contain citations for multiple variant at this locale. Please assessment the LitVar success cautiously in your variant of desire. History last updated May possibly twelve, 2024
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The publishing Group for this submitted (SCV) history. This column also features the SCV accession and Model variety, the date this SCV initial appeared in ClinVar, as well as the date this SCV was previous up to date in ClinVar.
In case you ignore your password, click on the forget about password link and an e-mail will be sent to you personally that contains a password reset link. Established a fresh password, update it and login to your account.
Stars represent the evaluate standing, or the extent of overview supporting the submitted (SCV) record. This benefit is calculated by NCBI determined by information within the submitter.
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