RIGI Chromosome 9
RNA sensor RIG-I
Upload your DNA to see your personal genotypes for variants in RIGI.
What This Gene Does
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of the antiviral innate immune response. Mutations in this gene are associated with Singleton-Merten syndrome 2. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
"DEAD-box helicases|Caspase recruitment domain containing|RIG-I RNA sensor family"
Locus Type
gene with protein product
Location
9p21.1
Ensembl
ENSG00000107201
Associated Conditions (3)
Inborn genetic diseases
Singleton-Merten syndrome 2
RIGI-related disorder
Key Variants
RS1064795754
Conflicting classifications of pathogenicity
Health Risk
RS1224971025
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140681302
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS553716308
Conflicting classifications of pathogenicity
Health Risk
RS556280930
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749687427
Conflicting classifications of pathogenicity
Health Risk
RS770291257
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1131691305
Likely pathogenic
Health Risk
RS1587586052
Likely pathogenic
Singleton-Merten syndrome 2, Singleton-Merten syndrome 2
Health Risk
RS2489331579
Likely pathogenic
RIGI-related disorder, RIGI-related disorder
Health Risk
RS786204847
Pathogenic
Singleton-Merten syndrome 2, Singleton-Merten syndrome 2
Health Risk
RS786204848
Pathogenic
Singleton-Merten syndrome 2, Singleton-Merten syndrome 2
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064795754 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1224971025 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140681302 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS553716308 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS556280930 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749687427 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770291257 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1131691305 | Health Risk | Likely pathogenic | — |
| RS1587586052 | Health Risk | Likely pathogenic | Singleton-Merten syndrome 2, Singleton-Merten syndrome 2 |
| RS2489331579 | Health Risk | Likely pathogenic | RIGI-related disorder, RIGI-related disorder |
| RS786204847 | Health Risk | Pathogenic | Singleton-Merten syndrome 2, Singleton-Merten syndrome 2 |
| RS786204848 | Health Risk | Pathogenic | Singleton-Merten syndrome 2, Singleton-Merten syndrome 2 |