Little Known Facts About slot thr777.
Little Known Facts About slot thr777.
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Comment: This sequence change impacts codon 777 from the GAA mRNA. It's really a 'silent' adjust, which means that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is A part of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in individuals influenced with GAA-related ailments.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the influence of sequence adjustments on RNA splicing counsel that this variant may perhaps generate or strengthen a splice internet site. In summary, the accessible proof is currently insufficient to ascertain the job of this variant in disorder. Consequently, it's been categorised as being a Variant of Uncertain Importance. Alright
These citations are identified by LitVar using the rs selection, so They might involve citations for more than one variant at this site. Make sure you evaluate the LitVar final results diligently to your variant of interest. Report last up to date May well 19, 2024
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The mixture germline classification for this variant, typically for your monogenic or Mendelian disorder as from the ACMG/AMP recommendations, or for reaction to the drug. This worth is calculated by NCBI dependant on info from submitters. Go through our regulations for calculating the aggregate classification.
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The amount of variants in ClinVar for this gene, together with smaller sized variants in the gene and bigger CNVs that overlap or completely consist of the gene.
The amount of variants in ClinVar that happen to be contained in just this gene, having a link to check out the list of variants.
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There are no citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, be sure to think about submitting that info to ClinVar.
The worldwide insignificant allele frequency calculated from the one thousand Genomes Job. The insignificant allele at this place is indicated in parentheses and link thr777 will be unique within the allele represented by this VCV record.
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