Variant: rs104895322 

    present in Gene: MMAB;MVK
    present in Chromosome: 12
    Position on Chromosome: 109574893
    Alleles of this Variant: -/T

rs104895322 in MMAB;MVK gene and Hyperimmunoglobulinemia D PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

rs104895322 in MMAB;MVK gene and Mevalonic Aciduria PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

rs104895322 in MMAB;MVK gene and POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.