ABCC7 p.Trp216Cys

ClinVar: c.647G>A , p.Trp216* ? , not provided
c.648G>T , p.Trp216Cys ? , not provided
CF databases: c.647G>A , p.Trp216* D , CF-causing
c.648G>T , p.Trp216Cys (CFTR1) ? , This mutation was present in a CBAVD patient in conjunction with L206W
Predicted by SNAP2: A: D (71%), C: D (59%), D: D (85%), E: D (80%), F: D (63%), G: D (80%), H: D (80%), I: D (66%), K: D (85%), L: D (75%), M: D (63%), N: D (80%), P: D (91%), Q: D (80%), R: D (85%), S: D (80%), T: D (80%), V: N (57%), Y: D (59%),
Predicted by PROVEAN: A: D, C: 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, Y: D,

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[hide] Quinton P, Molyneux L, Ip W, Dupuis A, Avolio J, Tullis E, Conrad D, Shamsuddin AK, Durie P, Gonska T
beta-Adrenergic Sweat Secretion as a Diagnostic Test for Cystic Fibrosis.
Am J Respir Crit Care Med. 2012 Oct 15;186(8):732-9. doi: 10.1164/rccm.201205-0922OC. Epub 2012 Aug 2., [PMID:22859523]

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