ABCB6 p.Arg192Trp

ClinVar: c.575G>A , p.Arg192Gln ? , Uncertain significance
Predicted by SNAP2: A: D (80%), C: D (75%), D: D (91%), E: D (85%), F: D (91%), G: D (85%), H: D (75%), I: D (85%), K: D (59%), L: D (85%), M: D (80%), N: D (71%), P: D (91%), Q: D (80%), S: D (75%), T: D (80%), V: D (85%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, 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] Saison C, Helias V, Peyrard T, Merad L, Cartron JP, Arnaud L
The ABCB6 mutation p.Arg192Trp is a recessive mutation causing the Lan- blood type.
Vox Sang. 2012 Sep 10. doi: 10.1111/j.1423-0410.2012.01650.x., [PMID:22958180]

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