Variant: rs121434244 

    present in Gene: SRD5A2
    present in Chromosome: 2
    Position on Chromosome: 31526225
    Alleles of this Variant: G/A

rs121434244 in SRD5A2 gene and Pseudovaginal Perineoscrotal Hypospadias PMID 10898110 2000 Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.

PMID 16098368 2005 A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

PMID 9843052 1998 Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

PMID 7554313 1995 A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency.

PMID 16181229 2005 SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

PMID 9208814 1997 Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).

PMID 10718838 2000 Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.

PMID 1522235 1992 Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

PMID 15528927 2004 Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.

PMID 12843198 2003 Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.

PMID 20190539 2010 Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.

PMID 835597 1977 Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency.

PMID 1406794 1992 Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred.

PMID 19492581 2009 Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.

PMID 10999800 2000 Uniparental disomy in steroid 5alpha-reductase 2 deficiency.

PMID 8768837 1996 Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.

PMID 15770495 2005 New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

PMID 9745434 1998 Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.

PMID 26446026 2016 Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.

PMID 8110760 1994 Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.

PMID 20493473 2010 Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.

PMID 15064320 2004 Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.

PMID 8626825 1996 5 alpha-reductase-2 gene mutations in the Dominican Republic.

PMID 27070133 2016 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.