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 web page are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the influence of sequence improvements on RNA splicing advise that this variant may perhaps create or improve a splice website. In summary, the available proof is at this time inadequate to ascertain the purpose of this variant in ailment. Therefore, it's been classified for a Variant of Unsure Significance.
This sequence change has an effect on codon 777 in the GAA mRNA. It's really a 'silent' adjust, meaning that it doesn't alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, that is Element of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in folks impacted with GAA-linked conditions.
There is not any purposeful evidence in ClinVar for this variation. If you have produced useful details for this variation, please think about submitting that data to ClinVar.
The global minor allele frequency calculated from the a thousand Genomes Task. The slight allele at this spot is indicated in parentheses and should be diverse through the allele represented by this VCV file.
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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 contemplate distributing that data to ClinVar.
The quantity of variants in ClinVar that are contained inside this gene, having a url to see the listing of variants.
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Stars signify the combination evaluation position, or the level of evaluation supporting the combination germline classification for this VCV file.
The volume of variants in ClinVar for this gene, like more compact variants throughout the gene and bigger CNVs that overlap or entirely include the gene.
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