Top latest Five thr777 Urban news
Top latest Five thr777 Urban news
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing propose that this variant may generate or reinforce a splice web site. In summary, the readily available proof is presently inadequate to determine the part of this variant in ailment. For that reason, it has been labeled as being a Variant of Uncertain Importance.
This sequence modify 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, and that is Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related situations.
There's no practical evidence in ClinVar for this variation. For those who have generated functional data for this variation, please think about publishing that details to ClinVar.
This column involves more details supporting the classification, such as citations, the comment on classification, and thorough proof supplied as observations from the variant through the submitter.
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There isn't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, you should contemplate distributing that information to ClinVar.
The submitting Business for this submitted (SCV) history. This column also consists of the SCV accession and Edition selection, the date this SCV 1st appeared in ClinVar, plus the date this SCV was very last up to date in ClinVar.
These citations are discovered by LitVar using thr777 the rs amount, so they may incorporate citations for more than one variant at this place. You should evaluate the LitVar benefits carefully in your variant of desire. Record previous up-to-date May possibly 19, 2024
Aberrant 5' splice internet sites in human disorder genes: mutation sample, nucleotide composition and comparison of computational equipment that forecast their utilization.
Stars represent the aggregate evaluation position, or the level of overview supporting the aggregate germline classification for this VCV record.
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Stars stand for the evaluate position, or the level of evaluation supporting the submitted (SCV) document. This value is calculated by NCBI according to data from the submitter.