| Geno
|
Mag
|
Summary
|
| (TCT;TCT)
|
0.5
|
Homozygous for F508C variant of cystic fibrosis gene; benign
|
| (TTT;TCT)
|
0.5
|
Heterozygous for F508C variant of cystic fibrosis gene; benign
|
| (TTT;TTT)
|
0
|
normal form
|
rs332 is *not* the delta F508 mutation that causes cystic fibrosis. That mutation is also known as rs113993960 and i3000001
delta F508 deletes the CTT that is one basepair upstream of the TTT/TCT in rs332.
rs332(TTT), i.e. 3 T's, is the normal allele. rs332(TCT) is a variation known as F508C, representing a benign change in amino acid 508 from phenylalanine to cysteine.OMIM[PMID 1977306
]
]
