G6PC3 Chromosome 17
Glucose-6-phosphatase catalytic subunit 3
Upload your DNA to see your personal genotypes for variants in G6PC3.
What This Gene Does
This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Glucose 6-phosphatases, catalytic
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000141349
Associated Conditions (5)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Inborn genetic diseases
Clear cell carcinoma of kidney
G6PC3-related disorder
Inherited Immunodeficiency Diseases
Key Variants
RS1157699874
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS140294222
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS140785361
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS141663645
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Clear cell carcinoma of kidney, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS148030756
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS1485073209
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS2050043415
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
Health Risk
RS2050055854
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS2050096005
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS34878178
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, G6PC3-related disorder, Inborn genetic diseases
Health Risk
RS375162061
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
RS375273894
Conflicting classifications of pathogenicity
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267606834 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS34019455 | Health Risk | Pathogenic | Inherited Immunodeficiency Diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inherited Immunodeficiency Diseases |
| RS745582203 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS747508165 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS748931188 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS762019955 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS767856364 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS769441127 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS769634275 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS772298089 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS775224457 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS777475388 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS778208850 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| RS797044567 | Health Risk | Pathogenic | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |