ABCC7 p.Ser1159Pro
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PMID: 12124743
[PubMed]
Salvatore F et al: "Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes."
No.
Sentence
Comment
46
A series of mutations usually associated with pancreatic sufficiency have been identified and defined as ''mild`` with reference to pancreatic status [Kerem et al., 1989c]: G85E, G91R, R117H, E193K, P205S, R334W, T338I, R347H, R347L, R347P, R352Q, A455E, S492F, S549N, P574H, D579G, 711 þ 5 G > A, C866Y, F1052V, H1054D, R1066H, R1068H, H1085R, D1152H, S1159P, S1251N, F1286S, G1349D, 2789 þ 5 G > A, and 3849 þ 10kb C > T [Dean et al., 1990; Cutting et al., 1990a; Cremonesi et al., 1992; Highsmith et al., 1994].
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ABCC7 p.Ser1159Pro 12124743:46:358
status: NEW
No.
Sentence
Comment
107
[1210-12[5]];[1210-34TG[13]] (IVS8 (TG)13-5T)c 1 1 c.2988+1G.A (3120+1G.A) / c.164+28A.G (296+28A.G)e 1 1d c.1521_1523delCTT (F508del) / c.226C.A (L32M)e 1 2 c.1521_1523delCTT (F508del) / c.3475T.C (S1159P)e 1 2 c.933_935delCTT (delF311)e / c.
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ABCC7 p.Ser1159Pro 26574590:107:199
status: NEW