Variant: rs376048533 

    present in Gene: IFIH1
    present in Chromosome: 2
    Position on Chromosome: 162272377
    Alleles of this Variant: C/T

rs376048533 in IFIH1 gene and AICARDI-GOUTIERES SYNDROME 7 PMID 25620204 2015 A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

PMID 28319323 2017 Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

rs376048533 in IFIH1 gene and SINGLETON-MERTEN SYNDROME 1 PMID 28319323 2017 Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

PMID 25620204 2015 A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.