The result from the variant on RNA or protein function, depending on experimental evidence from submitters.
This benefit is calculated by NCBI based upon facts from submitters. Examine our guidelines for calculating the overview status. The volume of submissions which add to this critique position is shown in parentheses.
There's no functional proof in ClinVar for this variation. When you've got produced purposeful data for this variation, please think about submitting that details to ClinVar.
The worldwide slight allele frequency calculated with the 1000 Genomes Venture. The minor allele at this locale is indicated in parentheses and may be various in the allele represented by this VCV record.
The positioning is protected. The https:// guarantees that you're connecting to your Formal Web page Which any details you deliver is encrypted and transmitted securely.
The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as inside the ACMG/AMP pointers, or for reaction to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our rules for calculating the combination classification.
Browse our procedures for calculating the evaluate standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection process.
The distributing Business for this submitted (SCV) record. This column also incorporates the SCV accession and version selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
This Web site is utilizing a protection company to protect itself from on the internet attacks. The action you simply done activated the safety Option. There are numerous actions that can induce this block together with publishing a specific phrase or phrase, a SQL command or malformed knowledge.
Aberrant five' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
Stars characterize the mixture evaluation position, or the level of review supporting the combination germline classification for this VCV file.
The number of variants in ClinVar for this gene, thr777 which include smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.
You are able to email the positioning operator to allow them to know you were blocked. Make sure you incorporate That which you ended up accomplishing when this page arrived up along with the Cloudflare Ray ID observed at The underside of this webpage.
Stars depict the critique status, or the level of evaluate supporting the submitted (SCV) history. This benefit is calculated by NCBI based upon facts with the submitter.