PMID: 16436646

Heaney DL, Flume P, Hamilton L, Lyon E, Wolff DJ
Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.
J Mol Diagn. 2006 Feb;8(1):137-40., [PubMed]
Sentences
No. Mutations Sentence Comment
66 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16436646:66:53
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 16436646:66:11
status: NEW
view ABCC7 p.Ile148Thr details
 Similar to I148T influencing 3199del6 in cis18,19 or R117H being influenced by the 5T variant,20 there could be an additional mutation on the same chromosome causing different phenotypes for those who have the same apparent genotype. Login to comment