| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 7q31.2 | {Bronchiectasis with or without elevated sweat chloride 1, modifier of} | 211400 | AD | 3 |
| {Hypertrypsinemia, neonatal} | 3 | |||
| {Pancreatitis, hereditary} | 167800 | AD | 3 | |
| Congenital bilateral absence of vas deferens | 277180 | AR | 3 | |
| Cystic fibrosis | 219700 | AR | 3 | |
| Sweat chloride elevation without CF | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q23.3 | {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis} | 219700 | AR | 3 | FCGR2A | 146790 |
| 7q31.2 | Cystic fibrosis | 219700 | AR | 3 | CFTR | 602421 |
| 19q13.2 | {Cystic fibrosis lung disease, modifier of} | 219700 | AR | 3 | TGFB1 | 190180 |
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