Variant: rs121912534 

    present in Gene: STON1-GTF2A1L;GTF2A1L;LHCGR
    present in Chromosome: 2
    Position on Chromosome: 48688094
    Alleles of this Variant: G/A;T

rs121912534 in STON1-GTF2A1L;GTF2A1L;LHCGR gene and Familial Testotoxicosis PMID 9467560 1998 A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

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

PMID 7714085 1995 A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

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

PMID 8281137 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited 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 11134146 2000 Our studies show that the A568V is the most frequent cause of male-limited precocious puberty in Brazilian boys.

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.