Variant: rs75328625

present in Gene: RNASEH2C present in Chromosome: 11 Position on Chromosome: 65720721 Alleles of this Variant: C/T

rs75328625 in RNASEH2C gene and AICARDI-GOUTIERES SYNDROME 3 PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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

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