Little Known Facts About thr777.
Little Known Facts About thr777.
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The result with the variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence alter has an effect on codon 777 in the GAA mRNA. It is a 'silent' adjust, that means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Component of the consensus splice web site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in people today influenced with GAA-linked disorders.
There is absolutely no functional proof in ClinVar for this variation. When you've got created useful knowledge for this variation, you should look at submitting that information to ClinVar.
The global insignificant allele frequency calculated via the one thousand Genomes Task. The small allele at this place is indicated in parentheses and will be distinct through the allele represented by this VCV document.
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The aggregate germline classification for this variant, commonly for just a monogenic or Mendelian condition as inside the ACMG/AMP pointers, or for reaction to your drug. This value is calculated by NCBI depending on knowledge from submitters. Read through our procedures for calculating the combination classification.
Examine our guidelines for calculating the review standing. This column also includes a website link to your submitter’s assertion requirements if supplied, and the gathering approach.
The publishing Group for this submitted (SCV) file. This column also consists of the SCV accession and Edition quantity, the date this SCV to thr777 start with appeared in ClinVar, and also the day this SCV was final up to date in ClinVar.
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Stars stand for the combination critique standing, or the level of overview supporting the mixture germline classification for this VCV document.
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