Facts About thr777 Revealed
Facts About thr777 Revealed
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The result on the variant on RNA or protein purpose, depending on experimental evidence from submitters.
This sequence adjust affects codon 777 of your GAA mRNA. This is a 'silent' alter, meaning that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's A part of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in folks influenced with GAA-related situations.
There's no functional proof in ClinVar for this variation. When you've got produced purposeful data for this variation, make sure you consider submitting that info to ClinVar.
This column consists of more details supporting the classification, together with citations, the comment on classification, and in depth proof supplied as observations of the variant via the submitter.
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Examine our regulations for calculating the critique standing. This column also features a backlink to your submitter’s assertion requirements if furnished, and the gathering system.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation amount, the day this SCV very first appeared in ClinVar, and the day this SCV was final updated in ClinVar.
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The quantity of variants in ClinVar for this gene, including smaller variants in the gene and larger CNVs that overlap or totally consist of the gene.
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