5 Easy Facts About link thr777 Described
5 Easy Facts About link thr777 Described
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Remark: This sequence change has an effect on codon 777 on the GAA mRNA. It is just a 'silent' improve, which means that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the final nucleotide of exon 16, which is 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 described inside the literature in people afflicted with GAA-connected problems.
Stars represent the review standing, or the level of overview supporting the submitted (SCV) document. This benefit is calculated by NCBI based upon details from your submitter.
The volume of variants in ClinVar for this gene, which include smaller sized variants in the gene and larger CNVs that overlap or completely incorporate the gene.
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The submitting Business for this submitted (SCV) document. This column also incorporates the SCV accession and Model selection, the day this SCV to start with appeared in ClinVar, along with the date that this SCV was previous current in ClinVar.
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The impact of your variant on RNA or protein function, according to experimental evidence from submitters.
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