ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the result of sequence adjustments on RNA splicing propose this variant may build or fortify a splice web page. In summary, the out there evidence is at present insufficient to find out the purpose of the variant in condition. Consequently, it has been labeled to be a Variant of Unsure Significance.
This price is calculated by NCBI depending on information from submitters. Read through our guidelines for calculating the review position. The number of submissions which contribute to this assessment status is revealed in parentheses.
There isn't a purposeful proof in ClinVar for this variation. For those who have created functional data for this variation, make sure you contemplate submitting that data to ClinVar.
This column involves additional information supporting the classification, such as citations, the comment on classification, and in depth evidence supplied as observations in the variant through the submitter.
The affliction for that classification, supplied by the submitter for this submitted (SCV) document. This column also incorporates the impacted status and allele origin of people observed with this variant.
The site is safe. The https:// ensures you are connecting into the Formal Site Which any info you provide is encrypted and transmitted securely.
There are no citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, you should think about publishing that details to ClinVar.
The publishing organization for this submitted (SCV) report. This column also consists of the SCV accession and Edition selection, the day this SCV initially appeared in ClinVar, and the date that this SCV was last up to date in ClinVar.
This website is employing a stability company to guard alone from on the web assaults. The action you only performed induced the security Resolution. There are many actions which could cause this block together with distributing a particular phrase or phrase, a SQL command or malformed facts.
Aberrant five' splice web sites in human disorder genes: mutation sample, nucleotide composition and comparison of computational equipment that predict their utilization.
The location is protected. The https:// makes certain that you're connecting for the official Web site thr777 and that any details you provide is encrypted and transmitted securely.
The internet site is secure. The https:// makes certain that you are connecting on the Formal website and that any data you deliver is encrypted and transmitted securely.
You could electronic mail the site owner to allow them to know you were blocked. Please contain Everything you had been carrying out when this website page came up as well as the Cloudflare Ray ID located at the bottom of the web site.
Stars represent the review position, or the extent of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.