ABCC8 p.Ala1366Thr
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101
In subject P03, we detected the novel and heterozygous non-synonymous ABCC8 mutation c.4096G.A/p.A1366T.
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ABCC8 p.Ala1366Thr 22662265:101:97
status: NEW108 Since the proband was sulfonylurea-sensitive, we categorized p.A1366T as being probably pathogenic.
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ABCC8 p.Ala1366Thr 22662265:108:63
status: NEW113 Gene Chr:Position Variant dbSNP132/1000 Gb frequency Frequency in 340 Norwegian controls SIFT/ PolyPhen-2/ AlignGVGDa Patient Conclusion ABCC8 11:17418486 c.4096G.A/p.A1366T 2/0 0 2/+/C55 P03 Pathogenic ALMS1 2:73677199 c.3542C.T/p.T1181I 2/0 0.1% n.a/+/n.a.
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ABCC8 p.Ala1366Thr 22662265:113:167
status: NEW