The Ultimate Guide To thr777
The Ultimate Guide To thr777
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the impact of sequence variations on RNA splicing suggest this variant may produce or reinforce a splice web site. In summary, the readily available proof is at the moment insufficient to determine the function of the variant in sickness. Therefore, it's been categorized like a Variant of Uncertain Importance.
This sequence adjust affects codon 777 with the GAA mRNA. This is a 'silent' change, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Element of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today impacted with GAA-relevant conditions.
There is no functional proof in ClinVar for this variation. For those who have produced purposeful data for this variation, please consider publishing that details to ClinVar.
The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this locale is indicated in parentheses and should be distinct in the allele represented by this VCV record.
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There are no citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, be sure to take into consideration submitting that information to ClinVar.
The number of variants in ClinVar that are contained in just this gene, by using a website link to view the listing of variants.
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Aberrant five' splice web-sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that forecast their utilization.
Stars signify the aggregate evaluate standing, or the level of evaluate supporting the aggregate germline classification for this VCV history.
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