Variant: rs77103971 

    present in Gene: RNASEH2A;HOOK2
    present in Chromosome: 19
    Position on Chromosome: 12810323
    Alleles of this Variant: C/T

rs77103971 in RNASEH2A;HOOK2 gene and AICARDI-GOUTIERES SYNDROME 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 23592335 2013 Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

PMID 21454563 2011 Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.

rs77103971 in RNASEH2A;HOOK2 gene and AICARDI-GOUTIERES SYNDROME 4 PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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.