Variant: rs121912518 

    present in Gene: LHCGR;STON1-GTF2A1L;GTF2A1L
    present in Chromosome: 2
    Position on Chromosome: 48688064
    Alleles of this Variant: T/C;G

rs121912518 in LHCGR;STON1-GTF2A1L;GTF2A1L gene and Familial Testotoxicosis PMID 8281137 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PMID 7757065 1995 Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 7692306 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 8929952 1996 A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.

PMID 11391350 2001 Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.

PMID 7629248 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

PMID 11134146 2000 Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

PMID 7714085 1995 We conclude that the constitutively higher cAMP levels caused by the A572V mutation led to Leydig cell activation and male-limited precocious puberty, as in the previously described D578G mutation.

PMID 9467560 1998 A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

PMID 9661624 1998 A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.