Variant: rs104895301 

    present in Gene: MVK
    present in Chromosome: 12
    Position on Chromosome: 109586098
    Alleles of this Variant: G/A

rs104895301 in MVK gene and Hyperimmunoglobulinemia D PMID 10369262 1999 Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

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

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

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

rs104895301 in MVK gene and POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 PMID 22983302 2012 Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

PMID 24781643 2014 Splicing mutation in MVK is a cause of porokeratosis of Mibelli.