GNPAT Chromosome 1
Glyceronephosphate O-acyltransferase
Upload your DNA to see your personal genotypes for variants in GNPAT.
What This Gene Does
This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Associated Conditions (12)
Rhizomelic chondrodysplasia punctata type 2
GNPAT-related disorder
Inborn genetic diseases
Colon adenocarcinoma
Familial cancer of breast
Colorectal cancer
Thyroid cancer
nonmedullary
1
Malignant tumor of esophagus
Cervical cancer
Rhizomelic chondrodysplasia punctata
Key Variants
RS1369256964
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS139272614
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, GNPAT-related disorder, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS142283145
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases, Colon adenocarcinoma
Health Risk
RS142487190
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS143388851
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS188474049
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS199844062
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS199905093
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS201538200
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS201916449
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS202033127
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
RS2296166
Conflicting classifications of pathogenicity
Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2527047139 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS759286038 | Health Risk | Likely pathogenic | — |
| RS777894746 | Health Risk | Likely pathogenic | GNPAT-related disorder, GNPAT-related disorder |
| RS121434439 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS1300770638 | Health Risk | Pathogenic | — |
| RS1487477220 | Health Risk | Pathogenic | — |
| RS1558334625 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS1571950208 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS1571955597 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS1571957148 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS1571960363 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS1685679145 | Health Risk | Pathogenic | — |
| RS2102813310 | Health Risk | Pathogenic | — |
| RS2102825068 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata |
| RS2527013115 | Health Risk | Pathogenic | — |
| RS2527013203 | Health Risk | Pathogenic | — |
| RS2527022021 | Health Risk | Pathogenic | — |
| RS2527024540 | Health Risk | Pathogenic | — |
| RS2527024984 | Health Risk | Pathogenic | — |
| RS2527029241 | Health Risk | Pathogenic | — |
| RS2527029264 | Health Risk | Pathogenic | — |
| RS2527037165 | Health Risk | Pathogenic | — |
| RS2527047768 | Health Risk | Pathogenic | — |
| RS745869264 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS781300183 | Health Risk | Pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS1283169932 | Health Risk | Pathogenic/Likely pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS2527021944 | Health Risk | Pathogenic/Likely pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS749069446 | Health Risk | Pathogenic/Likely pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |
| RS775397251 | Health Risk | Pathogenic/Likely pathogenic | Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2 |