ABCC6 p.Gln1406Lys

ClinVar: c.4216C>A , p.Gln1406Lys D , Pathogenic
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Le Boulanger G, Labreze C, Croue A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
Am J Med Genet A. 2010 Jan;152A(1):118-23., [PMID:20034067] [PubMed]

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[hide] Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
J Invest Dermatol. 2015 Apr;135(4):992-8. doi: 10.1038/jid.2014.421. Epub 2014 Sep 29., [PMID:25264593] [PubMed]

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