ABCMdb

ABCA4 p.Val675Ile

None has been submitted yet.

Publications

PMID: 26024099 [PubMed] Duncker T et al: "Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap."

No. Sentence Comment

62 [L541P;A1038V] NS 356 352 4 F 35.8 White 0.00 0.00 NF NF p.C213S 513 444 5 F 43.4 White 0.00 0.00 NF NF NF 489 424 6 M 34.2 White n/a n/a NF NF NF 293 302 7 M 58.9 White 1.00 0.88 NF NF NF 288 n/a 8 F 62.4 White 0.30 0.30 NF NF c.582-1G>A 479 535 9 F 60.3 White 0.88 0.88 c.4248_4250delCTT NF NF 510 457 10 M 57.9 White 0.60 0.60 NF NF NF n/a 384 11ߥ F 56.8 White 0.18 0.18 NF NF c.163delT 398 370 12* F 53.9 White 0.00 0.00 NF NF p.Y91N;c.310_313delATCT 536 564 13* F 47.9 White 0.00 0.30 NF NF p.Y91N;c.310_313delATCT 510 524 14 F 42.2 White 0.48 0.48 c.2069delG NF NF 541 571 15 F 52.8 White 0.00 0.00 NF NF NF 355 n/a 16 M 42.8 White 0.88 0.40 c.571-1G>T NF NF 518 529 17 M 42.8 White 0.10 0.00 NF NF NF 164 162 18 F 38.5 White 0.12 0.00 c.250_251insCAAA NF NF n/a 624 19 M 50.2 Asian&#a7; 0.60 0.70 p.V675I p.M1882I NF 471 502 20ߥ F 36.1 White 0.30 0.30 NF NF c.163delT 736 751 21 F 50.8 White 0.48 0.40 NF NF NF 396 367 22 M 48.6 Black 1.00 0.48 NF NF NF 351 339 23 F 25.6 White 1.00 1.00 p.G1961E p. Login to comment