ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the outcome of sequence alterations on RNA splicing advise this variant may well make or fortify a splice site. In summary, the obtainable evidence is presently insufficient to ascertain the job of this variant in disease. Consequently, it has been classified like a Variant of Uncertain Significance.
This price is calculated by NCBI depending on details from submitters. Study our regulations for calculating the critique position. The amount of submissions which lead to this evaluate standing is demonstrated in parentheses.
There's no purposeful evidence in ClinVar for this variation. If you have produced purposeful details for this variation, please contemplate submitting that facts to ClinVar.
This column consists of more details supporting the classification, which includes citations, the touch upon classification, and thorough proof supplied as observations with the variant via the submitter.
The location is secure. The https:// makes sure that you'll be connecting on the official Web site and that any data you offer is encrypted and transmitted securely.
The site is protected. The https:// guarantees that you will be connecting into the official Web page and that any info you supply is encrypted and transmitted securely.
There are no citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, be sure to consider publishing that information and facts to ClinVar.
The volume of variants in ClinVar that are contained in just this gene, with a link to view the listing of variants.
These citations are identified by LitVar using the rs quantity, so They might include citations for more than one variant at this place. Be sure to assessment the LitVar benefits meticulously for the variant of fascination. History final up to date May possibly 19, 2024
Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide construction and comparison of computational tools that forecast their utilization.
The internet site is safe. The https:// assures you are connecting towards the Formal Internet site Which any details you provide is encrypted and transmitted securely.
The number of variants in ClinVar for this gene, which includes lesser variants within the gene and larger CNVs that overlap or absolutely incorporate the gene.
You'll be able to e-mail the location operator to allow them to know you have been blocked. Remember to contain That which you were undertaking when this web page arrived up as well as thr777 the Cloudflare Ray ID found at The underside of this webpage.
The site is protected. The https:// assures you are connecting towards the Formal Internet site and that any facts you give is encrypted and transmitted securely.