GHSR
Gene name: growth hormone secretagogue receptorOMIM ID: 601898
Chromosome location: 3q26.31
Mutations
| Disease/Phenotype | Growth hormone deficiency, isolated partial |
|---|---|
| Reference transcript | NM_198407.2 |
| DNA Change | c.1072G>A |
| A.A. Change | p.Ala358Thr |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. |
| Disease/Phenotype | Short Stature, Idiopathic |
|---|---|
| Reference transcript | NM_198407.2 |
| DNA Change | c.611C>A |
| A.A. Change | p.Ala204Glu |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S.Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J Clin Invest. 2006 Mar;116(3):760-8. |
| Disease/Phenotype | Growth hormone deficiency, isolated partial |
|---|---|
| Reference transcript | NM_198407.2 |
| DNA Change | c.611C>A |
| A.A. Change | p.Ala204Glu |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. |