Variant: rs121912536 

    present in Gene: LHCGR;GTF2A1L;STON1-GTF2A1L
    present in Chromosome: 2
    Position on Chromosome: 48688770
    Alleles of this Variant: A/T

rs121912536 in LHCGR;GTF2A1L;STON1-GTF2A1L gene and Leydig cell agenesis PMID 19551906 2009 A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

PMID 8559204 1996 Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

PMID 9215288 1997 Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

PMID 15372531 2004 A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

PMID 15472221 2004 Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

PMID 9626144 1998 A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.

PMID 12050206 2002 Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

PMID 9626653 1998 A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

PMID 7719343 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

PMID 9514160 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.