ABCC7 p.Leu1388Val
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PMID: 17890437
[PubMed]
Montgomery J et al: "Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis."
No.
Sentence
Comment
98
Allele fraction (%) 1 125GϾC 3.8 3 356GϾA R75Q 3.5 4 605GϾC S158T Ͻ0.4b,c 6b 1001 ϩ 11CϾT 13.1 10 1540AϾG M470V 30.0d 1716GϾA 1.5 12 1859GϾC G576A 1.5 13 2134CϾT R668C 1.5 14a 2694TϾG 26.2 14b 2752 - 6TϾC 0.4 15 3032TϾC L967S 0.8 17b 3417AϾT T109S 1.5 19 3601 - 17TϾC 0.4 20 3891GϾA Ͻ0.4b,c 4002AϾG 1.5 21 4029AϾG 0.4 23 4294CϾG L1388V 0.4b 4316GϾA C1395Y 0.4b 4374 ϩ 13AϾG 0.4 24 4404CϾT 0.8 4521GϾA 20.8 a All variants were identified by scanning random panels and confirmed by sequencing.
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ABCC7 p.Leu1388Val 17890437:98:449
status: NEW90 Four variants (p.S158T, c.3891GϾA, p.L1388V, and p.C1395Y) have not been reported previously, and each was detected in only a single sample.
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ABCC7 p.Leu1388Val 17890437:90:43
status: NEW