ZNFX1 Chromosome 20
Zinc finger NFX1-type containing 1
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What This Gene Does
Enables RNA binding activity. Involved in defense response to bacterium and defense response to virus. Is active in cytoplasmic stress granule. Implicated in immunodeficiency 91. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"UPF1 like RNA helicases|Zinc fingers NFX1-type"
Locus Type
gene with protein product
Location
20q13.13
Ensembl
ENSG00000124201
Associated Conditions (3)
Inborn genetic diseases
ZNFX1-related disorder
Immunodeficiency 91 and hyperinflammation
Key Variants
RS142430147
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2516765924
Likely pathogenic
ZNFX1-related disorder, ZNFX1-related disorder
Health Risk
RS1981392635
Pathogenic
Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
Health Risk
RS2146731397
Pathogenic
Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
Health Risk
RS2146732210
Pathogenic
Health Risk
RS2146732308
Pathogenic
Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
Health Risk
RS2146741441
Pathogenic
Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
Health Risk
RS2146742427
Pathogenic
Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
Health Risk
RS2516781162
Pathogenic
Health Risk
RS775817125
Pathogenic
Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142430147 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2516765924 | Health Risk | Likely pathogenic | ZNFX1-related disorder, ZNFX1-related disorder |
| RS1981392635 | Health Risk | Pathogenic | Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation |
| RS2146731397 | Health Risk | Pathogenic | Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation |
| RS2146732210 | Health Risk | Pathogenic | — |
| RS2146732308 | Health Risk | Pathogenic | Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation |
| RS2146741441 | Health Risk | Pathogenic | Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation |
| RS2146742427 | Health Risk | Pathogenic | Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation |
| RS2516781162 | Health Risk | Pathogenic | — |
| RS775817125 | Health Risk | Pathogenic | Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation |