PMID: 21474640

Schrijver I
Mutation distribution in expanded screening for cystic fibrosis: making up the balance in a context of ethnic diversity.
Clin Chem. 2011 Jun;57(6):799-801. Epub 2011 Apr 7., [PubMed]
Sentences
No. Mutations Sentence Comment
20 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 21474640:20:220
status: NEW
view ABCC7 p.Ile148Thr details
 The decision in 2004 to reduce the original panel of 25 mutations to 23 (13) was based on a lower actual frequency of 1 mutation (c.948delT; legacy name, c.1078delT in exon 7) and the lack of pathogenicity of another (p.I148T). Login to comment 56 ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 21474640:56:124
status: NEW
view ABCC7 p.Asp1152His details
 Strom et al. raise the point that expanded panels frequently include mutations of unvetted clinical significance, such as p.D1152H. Login to comment