A Secret Weapon For login thr777
A Secret Weapon For login thr777
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Remark: This sequence adjust impacts codon 777 from the GAA mRNA. It's really a 'silent' improve, indicating that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Section of the consensus splice internet site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented during the literature in folks impacted with GAA-associated problems.
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There is no functional evidence in ClinVar for this variation. In case you have produced functional details for this variation, remember to take into consideration submitting that facts to ClinVar.
The submitting Corporation for this submitted (SCV) report. This column also consists of the SCV accession and Edition range, the day this SCV very first appeared in ClinVar, plus the date that this SCV was previous up to date in ClinVar.
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The influence with the variant on RNA or protein function, depending on experimental evidence from submitters.
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