ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the result of sequence improvements on RNA splicing suggest this variant may perhaps create or bolster a splice web-site. In summary, the obtainable evidence is now insufficient to determine the position of this variant in disease. Hence, it's been categorized as a Variant of Unsure Importance.

This benefit is calculated by NCBI dependant on facts from submitters. Go through our principles for calculating the assessment status. The volume of submissions which add to this evaluate standing is proven in parentheses.

There isn't a purposeful proof in ClinVar for this variation. When you have generated functional information for this variation, you should consider submitting that info to ClinVar.

The worldwide minimal allele frequency calculated because of the one thousand Genomes Venture. The minor allele at this location is indicated in parentheses and may be unique within the allele represented by this VCV history.

The issue for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people noticed using this type of variant.

The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI based on information from submitters. Go through our policies for calculating the mixture classification.

Read through our policies for calculating the overview status. This column also thr777 features a backlink to your submitter’s assertion requirements if supplied, and the gathering system.

The quantity of variants in ClinVar which can be contained inside this gene, with a backlink to look at the list of variants.

This Web-site is employing a security services to guard by itself from on the net assaults. The motion you merely executed brought on the safety solution. There are plenty of steps that could set off this block which includes distributing a certain word or phrase, a SQL command or malformed information.

Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.

The location is secure. The https:// makes sure you are connecting to your official Web page and that any information and facts you give is encrypted and transmitted securely.

The number of variants in ClinVar for this gene, which include more compact variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.

You could email the website owner to let them know you had been blocked. Remember to include things like Anything you were being doing when this web page arrived up and the Cloudflare Ray ID discovered at The underside of the site.

Stars characterize the critique standing, or the extent of evaluation supporting the submitted (SCV) file. This benefit is calculated by NCBI dependant on details with the submitter.