RNU7-1 Chromosome 12

RNA, U7 small nuclear 1
2 variants 2 Health Risk

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What This Gene Does
Implicated in Aicardi-Goutieres syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Small nuclear RNAs
Locus Type
RNA, small nuclear
Location
12p13.31
Ensembl
ENSG00000238923
Associated Conditions (2)
Aicardi-Goutieres syndrome 9
Spasticity
Key Variants
RS1055698058
Likely pathogenic
Aicardi-Goutieres syndrome 9, Spasticity, Aicardi-Goutieres syndrome 9
Health Risk
RS781842057
Likely pathogenic
Aicardi-Goutieres syndrome 9, Aicardi-Goutieres syndrome 9
Health Risk
All Variants (2)
RSID Category Clinical Significance Conditions
RS1055698058 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 9, Spasticity, Aicardi-Goutieres syndrome 9
RS781842057 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 9, Aicardi-Goutieres syndrome 9
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