The smart Trick of login thr777 That No One is Discussing
The smart Trick of login thr777 That No One is Discussing
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Remark: This sequence adjust affects codon 777 of your GAA mRNA. It is just a 'silent' modify, meaning that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's A part of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed in the literature in persons influenced with GAA-similar situations.
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The submitting organization for this submitted (SCV) history. This column also features the SCV accession and Model variety, the date this SCV first appeared in ClinVar, as well as day that this SCV was past updated in ClinVar.
This column consists of more details supporting the classification, which includes citations, the touch upon classification, and specific proof provided as observations in the variant because of the submitter.
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The quantity of variants in ClinVar that happen to be contained in just this gene, by using a link to view the list of variants.
Stars stand for the evaluate standing, or the extent of overview supporting the submitted (SCV) record. This benefit is calculated by NCBI determined by info from the submitter.
The influence from the thr777 variant on RNA or protein purpose, depending on experimental proof from submitters.
There isn't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, make sure you contemplate submitting that information and facts to ClinVar.
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