GPR179 Chromosome 17
G protein-coupled receptor 179
Upload your DNA to see your personal genotypes for variants in GPR179.
What This Gene Does
This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
G protein-coupled receptors, Class C orphans
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000277399
Associated Conditions (8)
Congenital stationary night blindness 1E
Inborn genetic diseases
Congenital stationary night blindness
GPR179-related disorder
Retinal dystrophy
Retinitis pigmentosa
Congenital stationary night blindness 1B
Optic atrophy
Key Variants
RS1023039979
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
Health Risk
RS112987826
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS117255299
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
Health Risk
RS1200683561
Conflicting classifications of pathogenicity
Congenital stationary night blindness, Congenital stationary night blindness
Health Risk
RS1243092519
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1329542100
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
Health Risk
RS137860025
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
Health Risk
RS144104172
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1E, GPR179-related disorder, Congenital stationary night blindness 1E
Health Risk
RS147753316
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147966258
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
Health Risk
RS149998444
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1E, GPR179-related disorder, Congenital stationary night blindness 1E
Health Risk
RS181844178
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2512176863 | Health Risk | Pathogenic | — |
| RS281875234 | Health Risk | Pathogenic | Congenital stationary night blindness 1E, Congenital stationary night blindness 1E |
| RS387907138 | Health Risk | Pathogenic | Congenital stationary night blindness 1E, Congenital stationary night blindness 1E |
| RS747682469 | Health Risk | Pathogenic | — |
| RS767509745 | Health Risk | Pathogenic | — |
| RS773126191 | Health Risk | Pathogenic | Congenital stationary night blindness 1E, Congenital stationary night blindness 1E |
| RS777056494 | Health Risk | Pathogenic | — |
| RS794726685 | Health Risk | Pathogenic | Congenital stationary night blindness 1E, Congenital stationary night blindness 1E |
| RS794726686 | Health Risk | Pathogenic | Congenital stationary night blindness 1E, Congenital stationary night blindness 1E |
| RS886043388 | Health Risk | Pathogenic | — |
| RS934214433 | Health Risk | Pathogenic | — |
| RS940957113 | Health Risk | Pathogenic | — |
| RS980007216 | Health Risk | Pathogenic | — |
| RS1268507778 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1567725425 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness 1E, Congenital stationary night blindness 1E |
| RS764877172 | Health Risk | Pathogenic/Likely pathogenic | GPR179-related disorder, GPR179-related disorder |
| RS768587459 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness 1E, Retinal dystrophy, Congenital stationary night blindness 1E |
| RS770066665 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness 1E, Congenital stationary night blindness, Retinal dystrophy |
| RS773022324 | Health Risk | Pathogenic/Likely pathogenic | Optic atrophy, Optic atrophy |
| RS886043488 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness, Congenital stationary night blindness |