The effect of your variant on RNA or protein purpose, based on experimental proof from submitters.
This worth is calculated by NCBI according to data from submitters. Examine our regulations for calculating the assessment position. The quantity of submissions which contribute to this evaluate status is revealed in parentheses.
There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to consider distributing that info to ClinVar.
The global small allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and will be distinct in the allele represented by this VCV history.
The site is safe. The https:// makes sure that you're connecting to your Formal Site Which any information and facts you supply is encrypted and transmitted securely.
The aggregate germline classification for this variant, commonly for a monogenic or Mendelian ailment as inside the ACMG/AMP pointers, or for reaction to your drug. This price is calculated by NCBI based on data from submitters. Read our procedures for calculating the combination classification.
Browse thr777 our rules for calculating the review position. This column also includes a website link for the submitter’s assertion criteria if provided, and the gathering approach.
The number of variants in ClinVar which are contained within this gene, with a url to perspective the listing of variants.
These citations are discovered by LitVar using the rs range, so they may involve citations for more than one variant at this site. Make sure you critique the LitVar outcomes thoroughly for the variant of curiosity. Report last up to date May possibly 19, 2024
Aberrant 5' splice sites in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
The internet site is safe. The https:// ensures that you will be connecting for the Formal Site Which any details you provide is encrypted and transmitted securely.
The quantity of variants in ClinVar for this gene, such as smaller sized variants in the gene and larger CNVs that overlap or fully comprise the gene.
You could e-mail the site owner to let them know you have been blocked. Make sure you include things like Anything you were performing when this webpage came up as well as the Cloudflare Ray ID found at the bottom of the website page.
Stars signify the review position, or the extent of overview supporting the submitted (SCV) report. This worth is calculated by NCBI depending on information with the submitter.