GH1
Gene name: growth hormone 1OMIM ID: 139250
Chromosome location: 17q23.3
Mutations
| Disease/Phenotype | Growth hormone deficiency, isolated, type IA |
|---|---|
| Reference transcript | NM_000515.3 |
| DNA Change | 6.7-KB DEL |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| 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 | Growth hormone deficiency, isolated, type IA |
|---|---|
| Reference transcript | NM_000515.3 |
| DNA Change | c.615C>G |
| A.A. Change | p.Ile205Met |
| Exon/Intron | exon 5 |
| 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 | Growth hormone deficiency, isolated, type IA |
|---|---|
| Reference transcript | NM_000515.3 |
| DNA Change | c.75T>G |
| A.A. Change | p.Ser25Arg |
| 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. |