ABCMdb

PMID: 17394391

Lebo RV, Grody WW
Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene.
Genet Test. 2007 Spring;11(1):32-44., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCC7 p.Arg117His Extensive experience screening mutations that had not been characterized thoroughly in patients with CF-like symptoms has resulted in adding a 5T reflex test for the R117H mutation and deleting two mutations from the original ACMG-recommended panel of 25 mutations (Grody et al. 2001; Watson et al. 2004). Login to comment 34 ABCC7 p.Arg117His This is in contrast to finding the 5T sequence on the same allele (in cis) with the R117H mutation so that the effect of both nucleotide modifications becomes more severe. Login to comment 35 ABCC7 p.Arg117His Thus, the ACMG Cystic Fibrosis Committee recommended that all patients testing positive for the R117H mutation found in the 25-mutation panel have a reflex test for the 5T allele. Login to comment 85 ABCC7 p.Arg117His (Note: These calculations are unrelated to the 5T allele found with an R117H mutation.) Login to comment 126 ABCC7 p.Arg117His At the same time, unlike other reports of mutations in cis like the R117H and 5T sequences (cf. Login to comment