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基因突变信息：c.794C>T(p.Ala265Val)  

KCNQ2病友社：病例1例

突变来源：新发突变


PolyPhen-2 report for O43526 A265V
Protein Acc：O43526  Position：265  AA1：A AA2：V 
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 POSSIBLY DAMAGING with a score of 0.900 (sensitivity: 0.82; specificity: 0.94)

Confidence

This mutation is predicted to be POSSIBLY DAMAGING with a score of 0.505 (sensitivity: 0.82; specificity: 0.81)

Confidence

KCNQ2突变数据库资料：

预后评级为：Pathogenic,epileptic encephalopathy(EE)


2018年3月随访：发育里程碑落后。

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