ABCA4 p.Pro862Leu
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PMID: 10442900
[PubMed]
De La Paz MA et al: "Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration."
No.
Sentence
Comment
89
One variant (P862L) was identified in only seven affected individuals.
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ABCA4 p.Pro862Leu 10442900:89:13
status: NEW120 Pedigree showing variant P862L.
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ABCA4 p.Pro862Leu 10442900:120:25
status: NEW131 of Controls (%) P862L 2682 C 3 T 2683 C 3 T 3/112 (3.6) 3/53 (3.8) 0/56 (0) T901A 2782 A 3 G 2/112 (1.8) 0/53 (0) 1/56 (1.8) N1868I 5684 A 3 T 3/112 (2.7) 4/53 (7.5) 4/56 (7.1) L1948P* 5924 T 3 C 112/112 (100) 53/53 (100) 56/56 (100) L1948P* 5924 T 3 C 5925 G 3 A 110/112 (98) 51/53 (96) 54/56 (96) I2023I 6150 C 3 T 9/112 (8) 5/53 (9.4) 3/56 (5.4) L2026L 6160 C 3 T 0/112 (0) 0/53 (0) 0/56 (0) I2083I 6330 C 3 T 9/112 (8) 4/53 (7.5) 5/56 (8.9) * Variants identified in probands only.
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ABCA4 p.Pro862Leu 10442900:131:16
status: NEW