Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the result of sequence changes on RNA splicing suggest that this variant might develop or reinforce a splice internet site. In summary, the readily available proof is at this time insufficient to determine the function of the variant in sickness. Hence, it's been categorized as being a Variant of Unsure Importance.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' modify, meaning that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons afflicted with GAA-connected ailments.
There is no functional proof in ClinVar for this variation. If you have created useful facts for this variation, you should look at distributing that data to ClinVar.
This column includes more info supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations on the variant from the submitter.
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Study our guidelines for calculating the evaluation position. This column also features a website link for the submitter’s assertion criteria if delivered, and the gathering approach.
The distributing Business for this submitted (SCV) document. This column also consists of the SCV accession and Model amount, the day this SCV very first appeared in ClinVar, and the date this SCV was past up to date in ClinVar.
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Stars signify the evaluation position, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by thr777 NCBI according to information from the submitter.