Little Known Facts About thr777.
Little Known Facts About thr777.
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The impact of the variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence improve has an effect on codon 777 from the GAA mRNA. It is a 'silent' transform, that means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be Portion of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside the literature in individuals impacted with GAA-linked conditions.
This date represents the last time this VCV report was current. The update could be due to an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar created for the variant such as incorporating HGVS expressions or even a rs quantity.
This column contains additional information supporting the classification, together with citations, the touch upon classification, and thorough proof provided as observations with the variant with the submitter.
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The aggregate germline classification for this variant, generally to get a monogenic or Mendelian disorder as inside the ACMG/AMP guidelines, or for response to some drug. This value is calculated by NCBI based upon data from submitters. Browse our guidelines for calculating the aggregate classification.
Browse our principles for calculating the assessment status. This column also features a backlink on the submitter’s assertion requirements if supplied, and the collection strategy.
The publishing Firm for this submitted (SCV) document. This column also incorporates the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, and the day that this SCV was very last updated in ClinVar.
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Stars symbolize the aggregate evaluate standing, or the extent thr777 of review supporting the mixture germline classification for this VCV report.
The quantity of variants in ClinVar for this gene, together with scaled-down variants within the gene and larger CNVs that overlap or absolutely have the gene.
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