thr777 Secrets
thr777 Secrets
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the effect of sequence alterations on RNA splicing propose that this variant could develop or strengthen a splice web page. In summary, the readily available evidence is at present insufficient to find out the function of the variant in disease. Therefore, it has been categorised for a Variant of Unsure Significance.
This sequence transform affects codon 777 from the GAA mRNA. This is a 'silent' change, this means that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is Portion of the consensus splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted inside the literature in men and women affected with GAA-similar ailments.
This date signifies the final time this VCV file was up to date. The update might be as a result of an update to on the list of incorporated submitted information (SCVs), or as a result of an update that ClinVar designed to your variant including including HGVS expressions or a rs variety.
This column incorporates more details supporting the classification, such as citations, the touch upon classification, and comprehensive evidence presented as observations in the variant by the submitter.
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The mixture germline classification for this variant, usually for a monogenic or Mendelian dysfunction as while in the ACMG/AMP suggestions, or for reaction to a drug. This price is calculated by NCBI determined by information from submitters. Browse our principles for calculating the combination classification.
There won't be any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, make sure you take into consideration submitting that facts to ClinVar.
The distributing organization for this submitted (SCV) document. This column also consists of the SCV accession and Edition selection, the day this SCV very first appeared in ClinVar, as well as the day that this SCV was very last updated in ClinVar.
These citations are discovered by LitVar utilizing the rs amount, so They could include citations for more than one variant at this site. You should overview the LitVar results thoroughly in your variant of curiosity. Record past up to date May 19, 2024
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Stars symbolize the aggregate overview position, or the level of evaluate supporting the aggregate germline classification for this VCV file.
The quantity of variants in ClinVar for this gene, together with smaller variants within the gene and bigger CNVs that overlap or fully comprise the gene.
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Stars symbolize the evaluation position, or the level of critique supporting the submitted (SCV) file. This benefit is calculated by NCBI determined by information with the submitter.