PMID: 16263954

Cottin V, Thibout Y, Bey-Omar F, Durieu I, Laoust L, Morel Y, Cordier JF
Late CF caused by homozygous IVS8-5T CFTR polymorphism.
Thorax. 2005 Nov;60(11):974-5., [PubMed]
Sentences
No. Mutations Sentence Comment
158 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16263954:158:263
status: NEW
view ABCC7 p.Arg117His details
 When in trans with a known CFTR mutation, the IVS8-5T allele may be responsible for congenital bilateral absence of the vas deferens or recurrent pancreatitis.4 It may modulate the variable expression of ''mild`` CFTR mutations such as when present in cis of the R117H mutation, thus causing a CF phenotype. Login to comment