ABCA4 p.Arg602Thr
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PMID: 19365591
[PubMed]
Maia-Lopes S et al: "ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis."
No.
Sentence
Comment
72
(Ser1642Arg [10])+(Val1681_Cys1685del [10])/ p.Leu11Pro 12 4796 Mo 43 1/10 / 3/10 c.4720G>T(33) / c.2791G>A(19) p.Glu1574X/p.Val931Met [5] 13 4859 Mo 30 0.5/10 / 0.5/10 c.5882G>A(42) / ND p.Gly1961Glu/ND 5472 Mo 30 6/10 / 8/10 c.5882G>A(42) / ND p.Gly1961Glu/ND 14 4974 S 7 1/10 / 1/10 c.4036_4037delAC(27) / c.400C>T(4) p.Thr1346fs/p.Gln134X 4975 S 7 1/10 / 1/10 c.
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ABCA4 p.Arg602Thr 19365591:72:314
status: NEW73 4036_4037delAC(27) / c.400C>T(4) p.Thr1346fs/p.Gln134X 15 5193 Mo 9 1/10 / 1/10 ND / ND ND/ND 16 5138 Mo 27 1/10 / 1/10 ND / ND ND/ND 17 5111 Mo 29 2.5/10 / 1.6/10 c.1928T>G(13) / ND p.Val643Gly/ND 5137 Mo 25 3/10 / FC ND / c.32T>C(1) ND/p.Leu11Pro 18 5709 Mi 9 2/10 / 2/10 c.32T>C(1) / c.1804C<T(13) p.Leu11Pro/p.Arg602Thr [9] 19 5434 Mo 17 2/10 / 2/10 c.
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ABCA4 p.Arg602Thr 19365591:73:314
status: NEW