5 Simple Techniques For thr777
5 Simple Techniques For thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence modifications on RNA splicing recommend that this variant may perhaps create or improve a splice site. In summary, the out there proof is currently insufficient to ascertain the role of the variant in disease. Consequently, it's been categorised as a Variant of Unsure Importance.
This sequence modify impacts codon 777 of your GAA mRNA. It's a 'silent' adjust, this means that it doesn't change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be Section of the consensus splice internet site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted within the literature in people today affected with GAA-similar situations.
There is no useful evidence in ClinVar for this variation. When you have generated practical data for this variation, remember to take into account distributing that data to ClinVar.
The global minor allele frequency calculated because of the 1000 Genomes Challenge. The small allele at this location is indicated in parentheses and could be diverse with the allele represented by this VCV report.
The ailment for that classification, provided by the submitter for this submitted (SCV) document. This column also includes the impacted position and allele origin of people observed with this particular variant.
The combination germline classification for this variant, generally to get a monogenic or Mendelian problem as in the ACMG/AMP pointers, or for reaction to some drug. This price is calculated by NCBI according to knowledge from submitters. Browse our principles for calculating the mixture classification.
Read through our principles for calculating the assessment status. This column also includes a link thr777 to your submitter’s assertion requirements if delivered, and the collection process.
The volume of variants in ClinVar that are contained in just this gene, which has a connection to see the list of variants.
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Stars stand for the mixture critique status, or the level of assessment supporting the combination germline classification for this VCV file.
The positioning is protected. The https:// assures that you are connecting to the official Web page and that any facts you offer is encrypted and transmitted securely.
The site is safe. The https:// makes sure that you will be connecting on the official Web site Which any data you give is encrypted and transmitted securely.
Stars stand for the critique position, or the level of review supporting the submitted (SCV) report. This value is calculated by NCBI depending on facts with the submitter.