La Clasificacio´n IC3D de Las Distrofias Corneales - Cornea Society

Córnea Volumen 27, Supl. 2, Diciembre 2008
La Clasificación IC3D de Las Distrofias Corneales
(continued) Distrofia Endotelial Hereditaria Congénita (CHED2)
Gen (Locus) Refseq Exón Nucleótido Cambios AA Cambios Original Referencia
15 c.2014_2016delTTC p.Phe672del or
F672del or F673del 121
or c.2017_2019delTTC p.Phe673del
IVS 15 c.2067 -6_-16
Inactivation
IVS15 –6_-16delins 118
delinsGGCCGGCCGG of splice acceptor site GGCCGGCCGG
16 c.2233_2240
p.Ile748MetfsX5 p.Thr747ThrfsX6 119
dupTATGACAC
17 c.2263C.T p.Arg755Trp Arg755Trp 116
c.2264G.A (g.9044G.A) p.Arg755Gln p.Arg755Gln 117, 118
c.2318C.T p.Pro773Leu Pro773Leu 116
c.2389_2391delGAT p.Asp797del Asp797del 116
c.2407C.T p.Gln803X Gln803X 116
c.2411G.A p.Arg804His p.Arg804His 117
c.2420delTinsGG p.Leu807ArgfsX71 p.Leu807ArgfsX71 117
c.2423_2454del p.Leu808ArgfsX110 p.Leu808ArgfsX110 119
18 c.2470G.A p.Val824Met p.Val824Met 116, 119
c.2498C.T p.Thr833Met p.Thr833Met 117
c.2528T.C p.Leu843Pro p.Leu843Pro 119
c.2566A.G p.Met856Val p.Met856Val 119
c.2606G.A p.Arg869His p.Arg869His 117
c.2605C.T p.Arg869Cys R869C 116, 118
19 c.2623C.T p.Arg875X Arg875X 116
q 2008 The Cornea Society
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