Variant: rs104894062 

    present in Gene: GML;CYP11B1
    present in Chromosome: 8
    Position on Chromosome: 142875712
    Alleles of this Variant: C/G;T

rs104894062 in GML;CYP11B1 gene and Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency PMID 23940125 2013 A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.

PMID 24987415 2014 Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency.

PMID 9302260 1997 CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

PMID 24022297 2014 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

PMID 20947076 2011 Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.

PMID 20089618 2010 Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

PMID 26476331 2016 Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

PMID 20331679 2010 Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

PMID 2022736 1991 A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

PMID 24536089 2014 Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.

PMID 26053152 2015 Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

PMID 16046588 2005 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.