Indicators on login thr777 You Should Know
Indicators on login thr777 You Should Know
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This sequence transform impacts codon 777 from the GAA mRNA. It's really a 'silent' improve, this means that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Section 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 reported from the literature in folks afflicted with GAA-relevant circumstances.
The submitting Firm for this submitted (SCV) report. This column also includes the SCV accession and version quantity, the date this SCV very first appeared in ClinVar, along with the day that this SCV was previous current in ClinVar.
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There aren't any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, be sure to take into account submitting that data to ClinVar.
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The publishing Firm for this submitted (SCV) document. This column also consists of the SCV accession and version selection, the date this SCV initial appeared in ClinVar, and the date this SCV was previous updated in ClinVar.
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These citations are recognized by LitVar using the rs number, so They could include things like citations for multiple variant at this area. Make sure you overview the LitVar benefits very carefully for the variant of desire. Report previous updated May perhaps 12, 2024
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