thr777 Options
thr777 Options
Blog Article
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the impact of sequence improvements on RNA splicing advise this variant may create or improve a splice site. In summary, the obtainable proof is at this time inadequate to ascertain the function of the variant in sickness. Hence, it's been classified like a Variant of Uncertain Importance.
This sequence transform affects codon 777 in the GAA mRNA. This is a 'silent' adjust, which means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Portion of the consensus splice web site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported in the literature in individuals impacted with GAA-relevant situations.
There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to consider publishing that details to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and should be distinct in the allele represented by this VCV record.
The condition for thr777 that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted standing and allele origin of individuals noticed with this particular variant.
The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI based upon data from submitters. Read our guidelines for calculating the combination classification.
Examine our regulations for calculating the critique standing. This column also includes a connection into the submitter’s assertion standards if offered, and the collection process.
The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to look at the list of variants.
These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this spot. Please assessment the LitVar success very carefully for your personal variant of interest. File very last current Could 19, 2024
Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
Stars symbolize the aggregate critique standing, or the extent of critique supporting the aggregate germline classification for this VCV document.
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Stars characterize the critique standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI depending on details from your submitter.