Variant: rs121918124

present in Gene: TACR3 present in Chromosome: 4 Position on Chromosome: 103719398 Alleles of this Variant: C/G;T

rs121918124 in TACR3 gene and HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

PMID 19079066 2009 TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.