ABCC7 p.Cys524Tyr

ClinVar: c.1572C>A , p.Cys524* D , Pathogenic
CF databases: c.1572C>A , p.Cys524* D , CF-causing
Predicted by SNAP2: A: D (63%), D: D (91%), E: D (91%), F: D (91%), G: D (85%), H: D (91%), I: D (85%), K: D (91%), L: D (91%), M: D (85%), N: D (85%), P: D (91%), Q: D (91%), R: D (91%), S: D (80%), T: D (80%), V: N (53%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: A: D, D: D, E: D, F: D, G: 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] Puzik A, Morris-Rosendahl DJ, Ruckauer KD, Otto C, Gessler P, Saueressig U, Hentschel R
Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).
BMC Pediatr. 2014 Jan 17;14:13. doi: 10.1186/1471-2431-14-13., [PMID:24433235]

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