thr777 Secrets
thr777 Secrets
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The impact of your variant on RNA or protein perform, according to experimental evidence from submitters.
This sequence alter impacts codon 777 in the GAA mRNA. It's a 'silent' change, meaning that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, that is Component of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described inside the literature in individuals influenced with GAA-associated conditions.
There's no functional proof in ClinVar for this variation. When you have created practical information for this variation, please think about publishing that knowledge to ClinVar.
The global slight allele frequency calculated with the a thousand Genomes Task. The small allele at this location is indicated in parentheses and should be distinct from the allele represented by this VCV report.
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The combination germline classification for this variant, normally for a monogenic or Mendelian dysfunction as in the ACMG/AMP tips, or for reaction to a drug. This value is thr777 calculated by NCBI determined by details from submitters. Go through our procedures for calculating the mixture classification.
Examine our principles for calculating the review status. This column also features a connection into the submitter’s assertion conditions if furnished, and the collection technique.
The distributing organization for this submitted (SCV) history. This column also incorporates the SCV accession and Model selection, the date this SCV to start with appeared in ClinVar, as well as date that this SCV was last current in ClinVar.
These citations are determined by LitVar utilizing the rs amount, so They could incorporate citations for multiple variant at this place. You should evaluation the LitVar effects cautiously in your variant of interest. File very last current Might 19, 2024
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Stars represent the combination overview status, or the level of evaluation supporting the combination germline classification for this VCV report.
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