About thr777
About thr777
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ClinVar is made up of 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 designed to forecast the influence of sequence improvements on RNA splicing recommend this variant could create or improve a splice web site. In summary, the out there evidence is at present insufficient to ascertain the role of this variant in ailment. Consequently, it's been categorized for a Variant of Unsure Significance.
This benefit is calculated by NCBI based on data from submitters. Study our policies for calculating the overview status. The amount of submissions which add to this evaluate standing is proven in parentheses.
This day represents the final time this VCV file was up to date. The update might be because of an update to among the list of integrated submitted information (SCVs), or on account of an update that ClinVar built towards the variant like including HGVS expressions or perhaps a rs amount.
The worldwide minimal allele frequency calculated with the a thousand Genomes Task. The small allele at this site is indicated in parentheses and may be distinctive in the allele represented by this VCV document.
The condition for your classification, provided by the submitter for this submitted (SCV) record. This column also involves the impacted position and allele origin of individuals observed using this type of variant.
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There isn't any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, please take into consideration publishing that facts to ClinVar.
The submitting Business thr777 for this submitted (SCV) record. This column also includes the SCV accession and Model amount, the day this SCV 1st appeared in ClinVar, as well as the day this SCV was last up-to-date in ClinVar.
These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for more than one variant at this area. Please critique the LitVar outcomes diligently on your variant of desire. Record previous updated May possibly 19, 2024
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Stars represent the combination critique standing, or the level of review supporting the combination germline classification for this VCV file.
The amount of variants in ClinVar for this gene, which includes scaled-down variants in the gene and larger CNVs that overlap or fully consist of the gene.
The site is safe. The https:// ensures that you'll be connecting to the Formal Internet site Which any information and facts you give is encrypted and transmitted securely.
The location is protected. The https:// ensures that you're connecting on the official Internet site and that any data you present is encrypted and transmitted securely.