IFIH1 Chromosome 2

Interferon induced with helicase C domain 1
124 variants 124 Health Risk

Upload your DNA to see your personal genotypes for variants in IFIH1.

What This Gene Does
IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]
Gene Info
Gene Group
"Caspase recruitment domain containing|RIG-I RNA sensor family"
Locus Type
gene with protein product
Location
2q24.2
Ensembl
ENSG00000115267
Associated Conditions (52)
Singleton-Merten syndrome 1
Aicardi-Goutieres syndrome 7
Inborn genetic diseases
Immunodeficiency 95
Familial cancer of breast
Basal ganglia calcification
idiopathic
childhood-onset
IFIH1-related disorder
IFIH1-related immunodeficiency
See cases
Multisystem inflammatory syndrome in children
Susceptibility to severe COVID-19
Uterine corpus endometrial carcinoma
Sarcoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Lymphoma
Uterine carcinosarcoma
+32 more conditions
Key Variants
RS1057520076
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
Health Risk
RS1323841528
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
Health Risk
RS1373494663
Conflicting classifications of pathogenicity
Inborn genetic diseases, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
Health Risk
RS138611889
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
Health Risk
RS139714761
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
Health Risk
RS142348767
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
Health Risk
RS144455277
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Immunodeficiency 95
Health Risk
RS145641024
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Familial cancer of breast
Health Risk
RS1466828817
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
Health Risk
RS147278787
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Basal ganglia calcification
Health Risk
RS148369169
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
Health Risk
RS150317197
Conflicting classifications of pathogenicity
Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related immunodeficiency
Health Risk
All Variants (124)
RSID Category Clinical Significance Conditions
RS1057520076 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1323841528 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1373494663 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS138611889 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS139714761 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS142348767 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS144455277 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Immunodeficiency 95
RS145641024 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Familial cancer of breast
RS1466828817 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS147278787 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Basal ganglia calcification
RS148369169 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS150317197 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related immunodeficiency
RS150760072 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1553459020 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1558875029 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1558879403 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1576222807 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1576243308 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS1682720062 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1683533087 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS180843163 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS199696786 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Immunodeficiency 95
RS199917968 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS200017837 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Basal ganglia calcification
RS200945986 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS200980825 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Inborn genetic diseases
RS201193151 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, See cases
RS201472224 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS201495678 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS201841403 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS202009944 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS2105192046 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS2105200537 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS2468964328 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS2469006270 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS35337543 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Multisystem inflammatory syndrome in children
RS35732034 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS35744605 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related immunodeficiency
RS367851471 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS369245661 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS373490708 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Inborn genetic diseases
RS374202040 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Immunodeficiency 95
RS374205118 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, See cases
RS374396452 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Inborn genetic diseases
RS375179358 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
RS376116707 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, IFIH1-related disorder
RS376420466 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS376806735 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Immunodeficiency 95
RS553669430 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7, IFIH1-related disorder
RS556015191 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1, Inborn genetic diseases
1 2 3 Next »
Sign Up to Analyze Your DNA Log In