Not known Factual Statements About thr777
Not known Factual Statements About thr777
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence alterations on RNA splicing counsel that this variant might develop or strengthen a splice web page. In summary, the accessible evidence is currently insufficient to find out the role of this variant in condition. As a result, it has been categorised like a Variant of Unsure Importance.
This sequence alter affects codon 777 in the GAA mRNA. It is a 'silent' change, indicating that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which is A part of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in individuals influenced with GAA-related problems.
This date signifies the final time this VCV record was up to date. The update may very well be as a result of an update to among the provided submitted data (SCVs), or resulting from an update that ClinVar made towards the variant including including HGVS expressions or possibly a rs quantity.
This column consists of additional information supporting the classification, such as citations, the comment on classification, and thorough evidence offered as observations on the variant by the submitter.
The situation for that classification, supplied by the submitter for this submitted (SCV) file. This column also involves the influenced status and allele origin of people observed using this type of variant.
The aggregate germline classification for this variant, generally to get a monogenic or Mendelian problem as in the ACMG/AMP tips, or for response to the drug. This value is calculated by NCBI based upon data from submitters. Study our regulations for calculating the mixture classification.
Read our thr777 rules for calculating the review standing. This column also features a backlink to your submitter’s assertion requirements if delivered, and the collection method.
The submitting Firm for this submitted (SCV) history. This column also incorporates the SCV accession and Model number, the day this SCV initial appeared in ClinVar, plus the date that this SCV was final up to date in ClinVar.
These citations are recognized by LitVar utilizing the rs amount, so They might contain citations for more than one variant at this place. Please assessment the LitVar effects thoroughly in your variant of curiosity. Record last up-to-date May possibly 19, 2024
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Stars signify the mixture assessment position, or the extent of review supporting the mixture germline classification for this VCV file.
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Stars stand for the evaluate position, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter.