Variant: rs78464826

present in Gene: RNASEH2C;KAT5 present in Chromosome: 11 Position on Chromosome: 65720062 Alleles of this Variant: G/A

rs78464826 in RNASEH2C;KAT5 gene and AICARDI-GOUTIERES SYNDROME 3 PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.