present in Gene: NR5A1
present in Chromosome: 9
Position on Chromosome: 124493083
Alleles of this Variant: G/A
rs1057517779 in
NR5A1 gene and
46,XY Sex Reversal 3
PMID 25122490 2014 Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
PMID 23154282 2012 The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
PMID 25383892 2015 Exome sequencing for the diagnosis of 46,XY disorders of sex development.
PMID 22907560 2012 Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
PMID 27169744 2016 Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
PMID 22028768 2011 Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
rs1057517779 in
NR5A1 gene and
Oligosynaptic Infertility
PMID 23154282 2012 The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
PMID 25383892 2015 Exome sequencing for the diagnosis of 46,XY disorders of sex development.
PMID 22907560 2012 Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
PMID 25122490 2014 Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
PMID 27169744 2016 Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
PMID 22028768 2011 Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.