ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the influence of sequence changes on RNA splicing suggest that this variant could create or strengthen a splice web-site. In summary, the available evidence is presently inadequate to find out the position of this variant in condition. As a result, it has been labeled like a Variant of Uncertain Importance.
This price is calculated by NCBI dependant on information from submitters. Read our guidelines for calculating the assessment position. The quantity of submissions which contribute to this evaluation status is shown in parentheses.
This day signifies the last time this VCV history was up-to-date. The update can be due to an update to among the list of integrated submitted information (SCVs), or resulting from an update that ClinVar built towards the variant including including HGVS expressions or possibly a rs selection.
The worldwide minimal allele frequency calculated with the 1000 Genomes Venture. The slight allele at this spot is indicated in parentheses and may be different within the allele represented by this VCV report.
The ailment to the classification, furnished by the submitter for this submitted (SCV) document. This column also contains the affected standing and allele origin of people observed using this variant.
The website is safe. The https:// makes certain that you are connecting on the Formal Web-site Which any info you give is encrypted and transmitted securely.
There isn't any citations for germline classification of this variant in thr777 ClinVar. If you are aware of of citations for this variation, please contemplate submitting that info to ClinVar.
The number of variants in ClinVar that are contained in just this gene, that has a url to check out the listing of variants.
This Web page is employing a security support to shield itself from on line attacks. The action you simply carried out brought on the safety Remedy. There are several steps that may bring about this block together with publishing a specific term or phrase, a SQL command or malformed knowledge.
Aberrant 5' splice web pages in human illness genes: mutation pattern, nucleotide composition and comparison of computational tools that forecast their utilization.
The location is safe. The https:// assures that you're connecting to the Formal Site Which any details you provide is encrypted and transmitted securely.
The quantity of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or absolutely incorporate the gene.
You could e-mail the internet site owner to let them know you had been blocked. Remember to include things like Anything you were performing when this webpage came up as well as the Cloudflare Ray ID located at the bottom of this page.
Stars signify the review position, or the level of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by info with the submitter.