present in Gene: MVK
present in Chromosome: 12
Position on Chromosome: 109576035
Alleles of this Variant: T/C
rs104895296 in
MVK gene and
Hyperimmunoglobulinemia D
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 10369261 1999 Mutations in MVK, encoding mevalonate kinase, cause 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.