Variant: rs28931609 

    present in Gene: GML;CYP11B2
    present in Chromosome: 8
    Position on Chromosome: 142915100
    Alleles of this Variant: G/A;T

rs28931609 in GML;CYP11B2 gene and Corticosterone Methyl Oxidase Type II Deficiency PMID 1594605 1992 All individuals affected with CMO-II deficiency were homozygous for both mutations, whereas eight asymptomatic subjects were homozygous for R181W alone and three were homozygous for V386A alone.

PMID 9814506 1998 Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.

PMID 9625333 1998 Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

PMID 12788848 2003 A compound heterozygote case of type II aldosterone synthase deficiency.

PMID 1346492 1992 Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients.