What Does thr777 Mean?
What Does thr777 Mean?
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The outcome with the variant on RNA or protein purpose, dependant on experimental evidence from submitters.
This sequence modify affects codon 777 on the GAA mRNA. It is a 'silent' alter, this means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented during the literature in folks afflicted with GAA-associated ailments.
There isn't a useful evidence in ClinVar for this variation. In case you have produced useful knowledge for this variation, remember to look at distributing that info to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be various from the allele represented by this VCV history.
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The aggregate germline classification for this variant, normally for just a monogenic or Mendelian disorder as while in the ACMG/AMP rules, or for reaction to the drug. This price is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the date this SCV 1st appeared in ClinVar, and also the day that this SCV was past up to date in ClinVar.
These citations are recognized by LitVar utilizing the rs selection, so They might include citations for more than thr777 one variant at this locale. Make sure you critique the LitVar outcomes diligently to your variant of fascination. History final up to date May perhaps 19, 2024
Aberrant five' splice sites in human disease genes: mutation sample, nucleotide composition and comparison of computational instruments that forecast their utilization.
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The volume of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or totally comprise the gene.
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Stars represent the evaluate position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on information in the submitter.