ABCC7 p.Ile521Phe
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PMID: 22326559
[PubMed]
Poulou M et al: "Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene."
No.
Sentence
Comment
61
(2) Disease causing Screening 9 24 (21) c.3953TNG p.Val1318Gly Prob. Dam. NT 0.00 Path. (8) Disease causing Azoospermia 10 22 (19) c.3494ANC p.Lys1165Thr Poss. Dam. NT 0.04 Path. (8) Disease causing Bronchitis 11 18 (15) c.2930CNG p.Ser977Cys Poss. Dam. NT 0.01 Path. (5) Disease causing Screening 12 11 (10) c.1561ANT p.Ile521Phe Poss. Dam. NT 0.01 Path. (0) Disease causing CBAVD 13 22 (19) c.3634GNT p.Val1212Phe Poss. Dam. T 0.42 Path. (6) Disease causing Screening 14 8 (7) c.955TNG p.Phe319Val Poss. Dam. T 0.48 Neut.
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ABCC7 p.Ile521Phe 22326559:61:321
status: NEW
PMID: 24631642
[PubMed]
Fanen P et al: "Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies."
No.
Sentence
Comment
70
Group A Group B Group C Group D Classic-CF CF-causing mutations Non-classic CF CFTR-related disorder associated mutations No clinical consequence Unknown clinical relevance All mutations in Table 2 and 711 + 3A > G*, R117H-T5*, D1152H*, L206W*, TG13-T5* TG13-T5a , R117H-T5a , D1152Ha , L206Wa , L997F, M952I, D565Ga , TG11-T5b , R117H-T7b , D443Y-G576A-R668C, R74W-D1270N, R75Qb TG11-T5b , R117H-T7b , R75Qb , 875 + 40A/G, M470V, T854T, P1290P, I807M, I521F, R74W, F508C, I506V, I148T All mutations (mostly missense) not yet analyzed or undergoing functional analysis a Mutations that may belong either to Group A or to Group B. b Mutations that may belong either to Group B or to Group C.
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ABCC7 p.Ile521Phe 24631642:70:453
status: NEW