The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the influence of sequence changes on RNA splicing suggest this variant could make or fortify a splice web-site. In summary, the accessible evidence is at the moment inadequate to find out the position of this variant in disorder. Therefore, it has been labeled for a Variant of Unsure Importance.
This sequence improve influences codon 777 of your GAA mRNA. This is a 'silent' modify, which means that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Section of the consensus splice internet site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in people today impacted with GAA-associated problems.
This day signifies the final time this VCV history was updated. The update can be on account of an update to among the incorporated submitted information (SCVs), or on account of an update that ClinVar designed towards the variant like adding HGVS expressions or possibly a rs range.
The global minimal allele frequency calculated from the 1000 Genomes Challenge. The small allele at this locale is indicated in parentheses and may be different through the allele represented by this VCV record.
The ailment for the classification, furnished by the submitter for this submitted (SCV) file. This column also consists of the impacted position and allele origin of individuals noticed with this particular variant.
The mixture germline classification for this variant, commonly for a monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for response to a drug. This worth is calculated by NCBI based on information from submitters. Read through our procedures for calculating the combination classification.
There isn't any citations for germline classification of this variant in ClinVar. If you already know of thr777 citations for this variation, you should take into consideration distributing that data to ClinVar.
The number of variants in ClinVar that are contained within just this gene, using a connection to see the list of variants.
These citations are determined by LitVar using the rs amount, so they may incorporate citations for more than one variant at this place. Remember to evaluate the LitVar final results meticulously in your variant of curiosity. Document past up-to-date Could 19, 2024
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Stars stand for the mixture overview status, or the level of assessment supporting the aggregate germline classification for this VCV file.
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