CFTR
Gene name: cystic fibrosis transmembrane conductance regulatorOMIM ID: 602421
Chromosome location: 7q31.2
Mutations
| Disease/Phenotype | Cystic fibrosis |
|---|---|
| Reference transcript | NM_000492.3 |
| DNA Change | c.220C>T |
| A.A. Change | p.Arg74Trp |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | de Prada Merino A, B?tschi FN, Bouchardy I, Beckmann JS, Morris MA, Hafen GM, Fellmann F.[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. J Cyst Fibros. 2010 Dec;9(6):447-9. |
| Disease/Phenotype | Cystic fibrosis |
|---|---|
| Reference transcript | NM_000492.3 |
| DNA Change | c.3208C>T |
| A.A. Change | p.Arg1070Trp |
| Exon/Intron | exon 20 |
| Mutation Type | substitution |
| Reference | de Prada Merino A, B?tschi FN, Bouchardy I, Beckmann JS, Morris MA, Hafen GM, Fellmann F.[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. J Cyst Fibros. 2010 Dec;9(6):447-9. |
| Disease/Phenotype | Cystic fibrosis |
|---|---|
| Reference transcript | NM_000492.3 |
| DNA Change | c.3808G>A |
| A.A. Change | p.Asp1270Asn |
| Exon/Intron | exon 23 |
| Mutation Type | substitution |
| Reference | de Prada Merino A, B?tschi FN, Bouchardy I, Beckmann JS, Morris MA, Hafen GM, Fellmann F.[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. J Cyst Fibros. 2010 Dec;9(6):447-9. |