Variant: rs766413410 

    present in Gene: AGK
    present in Chromosome: 7
    Position on Chromosome: 141615468
    Alleles of this Variant: C/A;G;T

rs766413410 in AGK gene and Cataract and cardiomyopathy PMID 22415731 2012 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs766413410 in AGK gene and Muscle hypotonia PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 22284826 2012 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

PMID 25208612 2014 Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

PMID 22415731 2012 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

PMID 28868593 2017 Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

PMID 23266196 2013 Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

rs766413410 in AGK gene and Overgrowth PMID 22284826 2012 Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 25208612 2014 Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

PMID 22415731 2012 Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

PMID 28868593 2017 Mutation in the AGK gene in two siblings with unusual Sengers syndrome.

PMID 23266196 2013 Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.