The outcome of your variant on RNA or protein functionality, according to experimental proof from submitters.

This price is calculated by NCBI according to data from submitters. Browse our regulations for calculating the overview status. The quantity of submissions which contribute to this evaluate standing is revealed in parentheses.

There isn't a useful proof in ClinVar for this variation. If you have produced purposeful knowledge for this variation, remember to take into consideration publishing that info to ClinVar.

The worldwide insignificant allele frequency calculated by the 1000 Genomes Undertaking. The small allele at this spot is indicated in parentheses and may be different within the allele represented by this VCV history.

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The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for reaction to the drug. This value is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating thr777 the combination classification.

There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that information and facts to ClinVar.

The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to see the listing of variants.

These citations are recognized by LitVar utilizing the rs number, so They might include citations for more than one variant at this site. Make sure you critique the LitVar outcomes thoroughly for the variant of curiosity. Report last updated May possibly 19, 2024 

Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.

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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or completely comprise the gene.

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