ABCB4 p.Arg788Trp

ClinVar: c.2363G>A , p.Arg788Gln N , Benign
Predicted by SNAP2: A: D (85%), C: D (80%), D: D (95%), E: D (91%), F: D (95%), G: D (91%), H: D (85%), I: D (91%), K: D (85%), L: D (91%), M: D (91%), N: D (95%), P: D (95%), Q: D (95%), S: D (95%), T: D (91%), V: D (91%), W: D (95%), Y: D (91%),
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, S: D, T: D, V: D, W: D, Y: D,

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[hide] Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Ruschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Hepatology. 2008 Oct;48(4):1157-66., [PMID:18781607]

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