Detailed Notes on thr777
Detailed Notes on thr777
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence modifications on RNA splicing propose this variant might develop or bolster a splice website. In summary, the out there proof is at the moment insufficient to find out the position of this variant in disorder. As a result, it's been categorized as being a Variant of Unsure Significance.
This sequence alter impacts codon 777 of your GAA mRNA. It's really a 'silent' transform, that means 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 Section of the consensus splice internet site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in men and women affected with GAA-linked circumstances.
This day signifies the last time this VCV report was up-to-date. The update may very well be resulting from an update to on the list of provided submitted records (SCVs), or as a consequence of an update that ClinVar built towards the variant such as adding HGVS expressions or simply a rs amount.
The global minimal allele frequency calculated because of the a thousand Genomes Project. The small allele at this locale is indicated in parentheses and should be different from your allele represented by this VCV record.
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The mixture germline classification for this variant, commonly for just a monogenic or Mendelian problem as in the ACMG/AMP tips, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Examine our policies for calculating the combination classification.
There aren't any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, you should take into consideration publishing thr777 that facts to ClinVar.
The distributing organization for this submitted (SCV) document. This column also consists of the SCV accession and version amount, the date this SCV 1st appeared in ClinVar, along with the day that this SCV was last updated in ClinVar.
These citations are identified by LitVar using the rs amount, so They might incorporate citations for multiple variant at this site. You should evaluation the LitVar success thoroughly in your variant of curiosity. File last current May possibly 19, 2024
Aberrant five' splice web pages in human illness genes: mutation pattern, nucleotide structure and comparison of computational resources that predict their utilization.
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