GCGR Chromosome 17
Glucagon receptor
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What This Gene Does
The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Glucagon receptor family
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000215644
Associated Conditions (1)
GCGR-related hyperglucagonemia
Key Variants
RS137897678
Conflicting classifications of pathogenicity
Health Risk
RS189736697
Conflicting classifications of pathogenicity
Health Risk
RS1296378838
Pathogenic
GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia
Health Risk
RS1598239171
Pathogenic
GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia
Health Risk
RS2143128666
Pathogenic
GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia
Health Risk
RS2509907102
Pathogenic
GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137897678 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS189736697 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1296378838 | Health Risk | Pathogenic | GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia |
| RS1598239171 | Health Risk | Pathogenic | GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia |
| RS2143128666 | Health Risk | Pathogenic | GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia |
| RS2509907102 | Health Risk | Pathogenic | GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia |