thr777 Things To Know Before You Buy
thr777 Things To Know Before You Buy
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The affliction with the classification, furnished by the submitter for this submitted (SCV) report. This column also features the afflicted position and allele origin of people noticed using this type of variant.
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This sequence adjust impacts codon 777 on the GAA mRNA. This is a 'silent' modify, which means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Portion of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in people today affected with GAA-linked disorders.
The distributing Firm for this submitted (SCV) history. This column also involves the SCV accession and Variation quantity, the day this SCV to start with appeared in ClinVar, plus the date this SCV was previous current in ClinVar.
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There isn't any functional evidence in ClinVar for this variation. If you have created useful facts for this variation, you should take into account submitting that facts to ClinVar.
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