ABCMdb

PMID: 20393308

Chandrasekharan S, Heaney C, James T, Conover C, Cook-Deegan R
Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis.
Genet Med. 2010 Apr;12(4 Suppl):S194-211., [PubMed]

Sentences

No. Mutations Sentence Comment

65 ABCC7 p.Trp1282* Half of Ashkenazi Jewish carriers of cystic fibrosis have the W1282X mutation (rarely found in non-Jewish carriers), whereas less than one-third have the [⌬F508] mutation. Login to comment 182 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr The ACMG specifically indicated that "Asian-Americans and Native Americans without significant Caucasian admixture should be informed of Table 1 Recommended core mutation panel for cystic fibrosis carrier screening in the general population Standard mutation panel R560T, ⌬F508a , R553Xb , R1162X, ⌬I507, 2184delA, G542X, G551Db , W1282X, N1303K, 621ϩ1G⌬T, R117H, 1717-1G⌬A, A455E, G85E, R334W, R347P, 711ϩ1G⌬T, 1898ϩ1G⌬A, 3849ϩ10kbC⌬T, 2789ϩ5G⌬A, 3659delC, and 3120ϩ1G⌬A Additional testable mutations I506Vc , I507Vc , F508Cc , and 5T/ 7T/9Td a University of Michigan/HSC Patent No. US 5,776,677. b Johns Hopkins University, Patent No. US 5,407,796. c Benign variants. Login to comment 184 ABCC7 p.Phe508Cys ABCC7 p.Ile506Val ABCC7 p.Ile507Val I506V, I507V, and F508C are performed only as reflex tests for unexpected homozygosity for ⌬F508 and/or ⌬I507. Login to comment 185 ABCC7 p.Arg117His ABCC7 p.Arg117His d 5T in cis can modify R117H phenotype or alone can contribute to congenital bilateral absence of vas deferens; 5T analysis is performed only as a reflex test for R117H positives. Login to comment