IFIH1 (NM_022168.4) sequence variants
(AGS7, Hlcd, MDA5, IMD95, MDA-5, RLR-2, IDDM19, SGMRT1)

General web sites
DNA	NC_000002.12 GRCh38	ENSG00000115267 GRCh38
	NC_000002.11 GRCh37	ENSG00000115267 GRCh37
	NG_011495.1
mRNA	NM_022168.4	ENST00000649979.2
CCDS	CCDS2217.1
Protein	NP_071451.2	ENSP00000497271.1
NCBI Gene	64135
OMIM Gene	606951
OMIM Disease	615846	610448
Nomenclature	HGNC
GenIA	12122

PubMed of the initial paper: Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice G & al A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome Rutsch F & al
Other links: MAP VIEW ORPHANET: Orphan disease database