thr777 Secrets
thr777 Secrets
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The effect of your variant on RNA or protein functionality, depending on experimental evidence from submitters.
This sequence change influences codon 777 in the GAA mRNA. It's really a 'silent' adjust, which means that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be A part of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported inside the literature in people today impacted with GAA-linked conditions.
There isn't any purposeful proof in ClinVar for this variation. When you've got created purposeful knowledge for this variation, you should consider distributing that details to ClinVar.
The worldwide slight allele frequency calculated with the 1000 Genomes Venture. The minor allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV document.
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The mixture germline classification for this variant, ordinarily for any monogenic or Mendelian condition as within the ACMG/AMP pointers, or for reaction to your drug. This value is calculated by NCBI based on facts from submitters. Read our regulations for calculating the mixture classification.
Read through our principles for calculating the review status. This column also features a backlink for the submitter’s thr777 assertion requirements if delivered, and the gathering process.
The submitting organization for this submitted (SCV) report. This column also features the SCV accession and Variation amount, the day this SCV 1st appeared in ClinVar, as well as the day that this SCV was very last up-to-date in ClinVar.
These citations are discovered by LitVar utilizing the rs number, so They might contain citations for multiple variant at this site. Please critique the LitVar results thoroughly for the variant of curiosity. File previous updated May possibly 19, 2024
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Stars signify the combination critique standing, or the extent of overview supporting the aggregate germline classification for this VCV history.
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