알파벳 축약어/축약형에 대한 의미는 무엇인가요?
조회 2,586
2017. 04. 10 - Mutation_typeD = deletionE = ampletG = grosdelI = insertionM = mutationN = grosinsP = complexR = prom,S = spliceX = indelCitation_typePrimary = primary literature reportAPR = additional phenotype reportFCR = functional characterization reportMCR = molecular characterization reportFAPR = report detailing both an additional phenotype and functional characterizationSAR = simple additional reportACR = additional case reportLSDB/LSDB report = refers to an entry linked out to the corresponding locus-specific database.Variant_typeDP = disease-associated polymorphisms. These are reported to be in significant association with disease (p<0.05) and are assumed to be functional (e.g. as a consequence of location, evolutionary conservation, replication studies etc), although there may be as yet no direct evidence (e.g. from an expression study) of function.DFP = disease-associated polymorphisms with additional supporting functional evidence. These are reported to be in significant association with disease (p<0.05) and to have evidence for being of direct functional importance (e.g. as a consequence of altered expression, mRNA studies etc).FP = in vitro/laboratory or in vivo functional polymorphisms. These are reported to affect the structure, function or expression of the gene (or gene product), but with no disease association reported as yet.DM = disease-causing mutations, pathological mutations reported to be disease causing in the original literature reportR = retired record. A record will be retired if it is deemed to no longer be disease causing