rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
10898110
2000
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
10999800
2000
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
12843198
2003
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
C
0.800
CausalMutation
CLINVAR
Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.
8110760
1994
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.
15528927
2004
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.
9843052
1998
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).
9208814
1997
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.
16098368
2005
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
1522235
1992
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.
8768837
1996
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
C
0.800
CausalMutation
CLINVAR
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
28544750
2017
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
C
0.800
CausalMutation
CLINVAR
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
27899157
2016
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
C
0.800
CausalMutation
CLINVAR
Steroid 5 alpha-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme.
8706317
1996
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
10718838
2000
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
15064320
2004
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
C
0.800
CausalMutation
CLINVAR
Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
1522235
1992
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
9745434
1998
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
5 alpha-reductase-2 gene mutations in the Dominican Republic.
8626825
1996
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
16181229
2005
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
C
0.800
CausalMutation
CLINVAR
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
9745434
1998
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
15770495
2005
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.800
GeneticVariation
UNIPROT
A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency.
7554313
1995
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
C
0.800
CausalMutation
CLINVAR
Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency.
7608269
1995
rs121434251
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
C
0.800
CausalMutation
CLINVAR
Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.
8723114
1996