2024-03-28 F12 - NM_000505.3 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID Exon 9 W268R p.(Trp287Arg) c.859T>A substitution 1 T>A Pathogenic YES YES Cell free system Culture studies Effect on enzymatic activity Sequencing Sanger Sequencing NGS Symptomatic Factor XII-associated cold autoinflammatory syndrome (FACAS) Unknown Unknown Germany/Caucasian The name at the protein level has been changed as compared to the initial publication to match the NM reference used in infevers 2020-04-30 Publication (PubMed PMID): 31924766 31924766/31771982