The effect of the variant on RNA or protein functionality, according to experimental proof from submitters.
This price is calculated by NCBI depending on information from submitters. Read our procedures for calculating the critique standing. The number of submissions which add to this assessment standing is proven in parentheses.
This day signifies the last time this VCV document was up-to-date. The update may be on account of an update to among the provided submitted documents (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or simply a rs number.
The worldwide minor allele frequency calculated from the 1000 Genomes Task. The insignificant allele at this location is indicated in parentheses and could be diverse through the allele represented by this VCV document.
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The combination germline classification for this variant, typically for any monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to your drug. This price is calculated by NCBI dependant on data from submitters. Read our guidelines for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. thr777 If you understand of citations for this variation, make sure you contemplate distributing that information and facts to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.
These citations are recognized by LitVar utilizing the rs number, so They might involve citations for more than one variant at this location. Please overview the LitVar results meticulously for your personal variant of curiosity. File past updated Could 19, 2024
Aberrant 5' splice web pages in human ailment genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
Stars depict the aggregate assessment position, or the extent of review supporting the combination germline classification for this VCV file.
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The internet site is secure. The https:// assures that you will be connecting to the official Site and that any data you deliver is encrypted and transmitted securely.
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