LHCGR

Gene name: luteinizing hormone/choriogonadotropin receptor
OMIM ID: 152790
Chromosome location: 2p16.3

Mutations

Disease/Phenotype	Leydig cell hypoplasia, type I
Reference transcript	NM_000233.3
DNA Change	c.907C>T
A.A. Change	p.Gln303X
Exon/Intron	exon 10
Mutation Type	substitution
Reference	Athanasoulia AP, Stalla GK, Auer MK. Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. Hormones (Athens). 2014 Jul-Sep;13(3):424-9.

---

Disease/Phenotype	Leydig cell hypoplasia, type I
Reference transcript	NM_000233.3
DNA Change	c.935A>G
A.A. Change	p.Asn312Ser
Exon/Intron	exon 10
Mutation Type	substitution
Reference	Athanasoulia AP, Stalla GK, Auer MK. Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. Hormones (Athens). 2014 Jul-Sep;13(3):424-9.

---