Variant: rs104894119

present in Gene: NR5A1 present in Chromosome: 9 Position on Chromosome: 124500685 Alleles of this Variant: C/T

rs104894119 in NR5A1 gene and 46,XX SEX REVERSAL 4 PMID 27855412 2017 A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.

PMID 27490115 2017 NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

PMID 27610946 2017 Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

PMID 27378692 2016 A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

rs104894119 in NR5A1 gene and 46,XY Sex Reversal 3 PMID 17694559 2008 Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

PMID 10369247 1999 A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.

PMID 18947601 2006 Consensus statement on management of intersex disorders.

PMID 17200175 2007 Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

PMID 11932325 2002 Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

PMID 24405868 2014 The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

PMID 28459839 2017 New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

PMID 27490115 2017 NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

PMID 27378692 2016 A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

rs104894119 in NR5A1 gene and PREMATURE OVARIAN FAILURE 7 (disorder) PMID 26523528 2016 Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

PMID 11038323 2000 Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.