ABCC7 p.Cys866Tyr

ClinVar: c.2597G>A , p.Cys866Tyr D , Likely pathogenic
CF databases: c.2596T>A , p.Cys866Ser (CFTR1) ? , This change has been detected by DGGE analysis and direct sequencing in one Spanish allele
c.2596T>G , p.Cys866Gly (CFTR1) ? , This mutation was identified in a CBAVD patient originating from Morocco.
c.2597G>A , p.Cys866Tyr (CFTR1) ? , This mutation was found on one CF chromosome while screening that exon with DGGE and following DNA sequencing. The other mutation is at this time unidentified.
Predicted by SNAP2: A: D (75%), D: D (95%), E: D (95%), F: D (91%), G: D (91%), H: D (95%), I: D (75%), K: D (95%), L: D (85%), M: D (91%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (85%), T: D (85%), V: D (75%), W: D (95%), Y: D (80%),
Predicted by PROVEAN: A: N, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: N, R: D, S: N, T: N, V: N, W: N, Y: N,

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[hide] Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
Hum Genet. 2001 Apr;108(4):290-8., [PMID:11379874]

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[hide] Salvatore F, Scudiero O, Castaldo G
Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
Am J Med Genet. 2002 Jul 22;111(1):88-95., 2002-07-22 [PMID:12124743]

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[hide] Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Hum Mutat. 2000;16(2):143-56., [PMID:10923036]

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[hide] Morral N, Dork T, Llevadot R, Dziadek V, Mercier B, Ferec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tummler B, Estivill X
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Hum Mutat. 1996;8(2):149-59., [PMID:8844213]

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[hide] Ravnik-Glavac M, Glavac D, Dean M
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Hum Mol Genet. 1994 May;3(5):801-7., [PMID:7521710]

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