Little Known Facts About thr777.
Little Known Facts About thr777.
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The outcome from the variant on RNA or protein purpose, determined by experimental proof from submitters.
This sequence improve influences codon 777 in the GAA mRNA. It is a 'silent' transform, indicating that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, that is part of the consensus splice internet site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in men and women afflicted with GAA-linked conditions.
There's no practical proof in ClinVar for this variation. If you have generated practical info for this variation, you should take into consideration publishing that details to ClinVar.
The worldwide slight allele frequency calculated with the 1000 Genomes Venture. The minor allele at this site is indicated in parentheses and will be various in the allele represented by this VCV record.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also consists of the influenced status and allele origin of individuals noticed with this variant.
The mixture germline classification for this variant, typically for just a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our rules for calculating the mixture classification.
Read through our policies for calculating the overview standing. This column also features a connection to your submitter’s assertion standards if offered, and the collection process.
The publishing Business for this submitted (SCV) history. This column also incorporates the SCV accession and version range, the date this SCV initially appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
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Aberrant 5' splice web sites in human condition genes: thr777 mutation pattern, nucleotide structure and comparison of computational resources that forecast their utilization.
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The quantity of variants in ClinVar for this gene, such as scaled-down variants within the gene and bigger CNVs that overlap or fully incorporate the gene.
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Stars symbolize the assessment status, or the extent of evaluate supporting the submitted (SCV) history. This price is calculated by NCBI based upon knowledge through the submitter.