thr777 Options
thr777 Options
Blog Article
ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the impact of sequence variations on RNA splicing suggest this variant may well create or fortify a splice website. In summary, the offered evidence is at present insufficient to determine the role of the variant in disorder. Thus, it has been categorized like a Variant of Unsure Importance.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice web-site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in men and women affected with GAA-related problems.
This date signifies the final time this VCV history was updated. The update could possibly be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant like including HGVS expressions or possibly a rs quantity.
This column consists of more info supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations of the variant through the submitter.
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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that details to ClinVar.
The amount of variants in ClinVar which can be contained within this gene, which has a url to check out the listing of variants.
These citations are identified by LitVar using the rs selection, so they may include things like citations for more than one variant at this area. Be sure to assessment the LitVar effects cautiously in your variant of desire. Document previous up-to-date May 19, 2024
Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.
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The number of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars signify the evaluation status, or the extent of critique supporting thr777 the submitted (SCV) report. This price is calculated by NCBI determined by knowledge from your submitter.