What Does thr777 Mean?
What Does thr777 Mean?
Blog Article
The result in the variant on RNA or protein function, depending on experimental proof from submitters.
This benefit is calculated by NCBI based on data from submitters. Browse our policies for calculating the assessment position. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.
This date signifies the final time this VCV file was updated. The update could be because of an update to among the list of included submitted records (SCVs), or on account of an update that ClinVar designed into the variant like incorporating HGVS expressions or a rs quantity.
The global minor allele frequency calculated by the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and may be different within the allele represented by this VCV report.
The internet site is protected. The https:// makes sure that you'll be connecting on the official website Which any facts you offer is encrypted and transmitted securely.
The site is secure. The https:// makes certain you are connecting to your Formal website Which any information and facts you present is encrypted and transmitted securely.
Browse our procedures for calculating the review position. This column also includes a website link towards the thr777 submitter’s assertion criteria if delivered, and the gathering approach.
The distributing Corporation for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the day this SCV 1st appeared in ClinVar, and also the day this SCV was final current in ClinVar.
These citations are determined by LitVar utilizing the rs variety, so They could incorporate citations for multiple variant at this area. Be sure to assessment the LitVar success very carefully for your personal variant of curiosity. File past updated May well 19, 2024
Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
The website is protected. The https:// ensures that you will be connecting for the official Web site Which any info you deliver is encrypted and transmitted securely.
The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or fully include the gene.
You can e mail the website proprietor to allow them to know you had been blocked. Make sure you incorporate Anything you were carrying out when this webpage came up as well as Cloudflare Ray ID discovered at The underside of this webpage.
Stars represent the assessment status, or the level of critique supporting the submitted (SCV) file. This worth is calculated by NCBI depending on information in the submitter.