GHRHR Chromosome 7
Growth hormone releasing hormone receptor
Upload your DNA to see your personal genotypes for variants in GHRHR.
What This Gene Does
This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
Glucagon receptor family
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000106128
Associated Conditions (6)
Isolated growth hormone deficiency type IB
GHRHR-related disorder
Inborn genetic diseases
Isolated growth hormone deficiency
type 4
Pituitary hormone deficiency
Key Variants
RS10227922
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
Health Risk
RS117572522
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, GHRHR-related disorder, Isolated growth hormone deficiency type IB
Health Risk
RS13223704
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
Health Risk
RS138615339
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Inborn genetic diseases, Isolated growth hormone deficiency type IB
Health Risk
RS138751215
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Inborn genetic diseases, Isolated growth hormone deficiency type IB
Health Risk
RS142833343
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
Health Risk
RS143429066
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
Health Risk
RS145466944
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
Health Risk
RS146944568
Conflicting classifications of pathogenicity
Health Risk
RS147098353
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
Health Risk
RS148704543
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
Health Risk
RS151019928
Conflicting classifications of pathogenicity
Isolated growth hormone deficiency type IB, GHRHR-related disorder, Isolated growth hormone deficiency type IB
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10227922 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS117572522 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, GHRHR-related disorder, Isolated growth hormone deficiency type IB |
| RS13223704 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS138615339 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Inborn genetic diseases, Isolated growth hormone deficiency type IB |
| RS138751215 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Inborn genetic diseases, Isolated growth hormone deficiency type IB |
| RS142833343 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS143429066 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS145466944 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS146944568 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147098353 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS148704543 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS151019928 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, GHRHR-related disorder, Isolated growth hormone deficiency type IB |
| RS151020002 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS187794371 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS201893637 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Inborn genetic diseases, Isolated growth hormone deficiency type IB |
| RS28371558 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS28371562 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS369716383 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375206873 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377182945 | Health Risk | Conflicting classifications of pathogenicity | Isolated growth hormone deficiency type IB, Inborn genetic diseases, Isolated growth hormone deficiency type IB |
| RS879415203 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1313808810 | Health Risk | Likely pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS570281194 | Health Risk | Likely pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS606231412 | Health Risk | Likely pathogenic | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS606231413 | Health Risk | Likely pathogenic | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS774281185 | Health Risk | Likely pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS1049885467 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS121918117 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS121918119 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS121918120 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS121918121 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS1368616115 | Health Risk | Pathogenic | Pituitary hormone deficiency, Pituitary hormone deficiency |
| RS1381777610 | Health Risk | Pathogenic | — |
| RS1562592874 | Health Risk | Pathogenic | — |
| RS1562606449 | Health Risk | Pathogenic | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS2128596101 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS2128598609 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS2302022 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS2535095740 | Health Risk | Pathogenic | — |
| RS2535095827 | Health Risk | Pathogenic | — |
| RS2535098305 | Health Risk | Pathogenic | — |
| RS376258046 | Health Risk | Pathogenic | — |
| RS376948691 | Health Risk | Pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS748432685 | Health Risk | Pathogenic | — |
| RS755092627 | Health Risk | Pathogenic | — |
| RS121918118 | Health Risk | Pathogenic/Likely pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS200848306 | Health Risk | Pathogenic/Likely pathogenic | Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency, type 4 |
| RS758798716 | Health Risk | Pathogenic/Likely pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |
| RS779187338 | Health Risk | Pathogenic/Likely pathogenic | Isolated growth hormone deficiency, type 4, Isolated growth hormone deficiency |