KCNQ2基因突变数据库

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基因突变信息：c.920T>C(p.Leu307Pro)

KCNQ2病友社：病例1例

突变来源：新发突变

PolyPhen-2 report for O43526 L307P
Protein Acc：O43526 Position：307 AA1：L AA2：P
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 PROBABLY DAMAGING with a score of 1.000 (sensitivity: 0.00; specificity: 1.00)

Confidence

This mutation is predicted to be PROBABLY DAMAGING with a score of 1.000 (sensitivity: 0.00; specificity: 1.00)

Confidence

KCNQ2突变数据库资料：

预后评级为：暂无

2018年3月随访：发育里程碑落后。

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