The impact from the variant on RNA or protein function, determined by experimental evidence from submitters.
This benefit is calculated by NCBI according to information from submitters. Read our procedures for calculating the evaluate standing. The number of submissions which lead to this evaluation position is proven 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 publishing that facts to ClinVar.
The worldwide small allele frequency calculated by the one thousand Genomes Project. The small allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
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There won't be any citations for germline classification of this variant thr777 in ClinVar. If you understand of citations for this variation, remember to take into account distributing that details to ClinVar.
The amount of variants in ClinVar which can be contained inside of this gene, having a connection to look at the list of variants.
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this location. Be sure to overview the LitVar success meticulously to your variant of interest. History last current Might 19, 2024
Aberrant 5' splice web-sites in human sickness genes: mutation sample, nucleotide construction and comparison of computational equipment that predict their utilization.
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Stars signify the evaluation status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI determined by knowledge from your submitter.