Variant: rs79318303 

    present in Gene: ATRIP;SHISA5;ATRIP-TREX1;TREX1
    present in Chromosome: 3
    Position on Chromosome: 48467514
    Alleles of this Variant: CCACTGGGTCTGCTGGCC/-

rs79318303 in ATRIP;SHISA5;ATRIP-TREX1;TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 24300241 2014 A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 28750028 2017 Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

PMID 25582466 2014 [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].

rs79318303 in ATRIP;SHISA5;ATRIP-TREX1;TREX1 gene and Chilblain lupus 1 PMID 24300241 2014 A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 25582466 2014 [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].

PMID 28750028 2017 Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

rs79318303 in ATRIP;SHISA5;ATRIP-TREX1;TREX1 gene and Vasculopathy, Retinal, With Cerebral Leukodystrophy PMID 24300241 2014 A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 28750028 2017 Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

PMID 25582466 2014 [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].