基因突变信息:c.712A>C(p.Ile238Leu)
KCNQ2病友社:病例1例
突变来源:新发突变
PolyPhen-2 report for O43526 I238L
Protein Acc:O43526 Position:238 AA1:I AA2:L
Description:Canonical; RecName: Full=Potassium voltage-gated channel subfamily KQT member 2; AltName: Full=KQT-like 2; AltName: Full=Neuroblastoma-specific potassium channel subunit alpha KvLQT2; AltName: Full=Voltage-gated potassium channel subunit Kv7.2; Length: 872
Results Prediction/Confidence
This mutation is predicted to be BENIGN with a score of 0.064 (sensitivity: 0.94; specificity: 0.84)
This mutation is predicted to be BENIGN with a score of 0.110 (sensitivity: 0.91; specificity: 0.69)
KCNQ2突变数据库资料:
预后评级为:暂无
2018年3月随访:发育里程碑正常。
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