Variant: rs104895304 

    present in Gene: MVK
    present in Chromosome: 12
    Position on Chromosome: 109591275
    Alleles of this Variant: T/C

rs104895304 in MVK gene and Hyperimmunoglobulinemia D PMID 19011501 2008 Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

PMID 11313768 2001 Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 10369262 1999 Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

PMID 15536479 2005 MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

PMID 11313769 2001 Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

PMID 10401001 1999 Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

PMID 10417275 1999 Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

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

PMID 27142780 2016 Natural history of mevalonate kinase deficiency: a literature review.

PMID 27213830 2016 The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

PMID 10369261 1999 Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 24470648 2014 Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

PMID 24084495 2013 Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

PMID 21425920 2011 Perinatal onset mevalonate kinase deficiency.

PMID 23692791 2014 Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

PMID 26116953 2016 Treatment of adult hyper-IgD syndrome with canakinumab.

rs104895304 in MVK gene and Mevalonic Aciduria PMID 21425920 2011 Perinatal onset mevalonate kinase deficiency.

PMID 1377680 1992 Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

PMID 10401001 1999 Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

PMID 24084495 2013 Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

PMID 10417275 1999 Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

PMID 10369261 1999 Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 26116953 2016 Treatment of adult hyper-IgD syndrome with canakinumab.

PMID 19011501 2008 Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

PMID 11313768 2001 Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 11313769 2001 Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

PMID 27142780 2016 Natural history of mevalonate kinase deficiency: a literature review.

PMID 24470648 2014 Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.

PMID 23692791 2014 Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

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

PMID 27213830 2016 The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

rs104895304 in MVK gene and POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 PMID 10401001 1999 Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

PMID 27213830 2016 The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

PMID 27142780 2016 Natural history of mevalonate kinase deficiency: a literature review.

PMID 10417275 1999 Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

PMID 21425920 2011 Perinatal onset mevalonate kinase deficiency.

PMID 10369261 1999 Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 19011501 2008 Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

PMID 23692791 2014 Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.

PMID 11313769 2001 Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

PMID 26116953 2016 Treatment of adult hyper-IgD syndrome with canakinumab.

PMID 24470648 2014 Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.