ABCC7 p.Gly542Asp

ClinVar: c.1624G>T , p.Gly542* D , Pathogenic
CF databases: c.1624G>T , p.Gly542* D , CF-causing
c.1625G>A , p.Gly542Glu (CFTR1) ? ,
Predicted by SNAP2: A: N (53%), C: D (71%), D: D (85%), E: D (85%), F: D (85%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: N (53%), N: D (80%), P: D (91%), Q: D (80%), R: D (91%), S: N (53%), T: D (80%), V: D (80%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Artlich A, Boysen A, Bunge S, Entzian P, Schlaak M, Schwinger E
Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.
Hum Genet. 1995 Feb;95(2):226-8., [PMID:7532152]

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