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检索条件：

基因: UGDH & 疾病: DEE84, 共27条

ClinVar	基因	碱基改变	氨基酸改变	转录本ID	突变类型	临床意义	疾病数量	文献数量
592087	UGDH	c.950G>A	p.Arg317Gln (p.R317Q)	NM_003359.4 M	SNV	致病突变	1 +	3
	UGDH	c.749G>A	p.Arg250Gln (p.R250Q)	NM_001184700.2	SNV	致病突变	1 +	3
	UGDH	c.659G>A	p.Arg220Gln (p.R220Q)	NM_001184701.2	SNV	致病突变	1 +	3
810645	UGDH	c.1177C>T	p.Arg393Trp (p.R393W)	NM_003359.4 M	SNV	可能致病	1 +	1
810646	UGDH	c.1100A>G	p.Tyr367Cys (p.Y367C)	NM_003359.4 M	SNV	致病突变	1 +	1
810656	UGDH	c.244G>A	p.Ala82Thr (p.A82T)	NM_003359.4 M	SNV	致病突变	1 +	1
810657	UGDH	c.214T>G	p.Ser72Ala (p.S72A)	NM_003359.4 M	SNV	致病突变	1 +	1
810658	UGDH	c.193C>T	p.Arg65Ter (p.R65X)	NM_003359.4 M	SNV	致病突变	1 +	1
810659	UGDH	c.131C>T	p.Ala44Val (p.A44V)	NM_003359.4 M	SNV	致病突变	1 +	1
810662	UGDH	c.41A>G	p.Tyr14Cys (p.Y14C)	NM_003359.4 M	SNV	致病突变	1 +	1
810645	UGDH	c.976C>T	p.Arg326Trp (p.R326W)	NM_001184700.2	SNV	可能致病	1 +	1
810645	UGDH	c.886C>T	p.Arg296Trp (p.R296W)	NM_001184701.2	SNV	可能致病	1 +	1
810646	UGDH	c.899A>G	p.Tyr300Cys (p.Y300C)	NM_001184700.2	SNV	致病突变	1 +	1
810646	UGDH	c.809A>G	p.Tyr270Cys (p.Y270C)	NM_001184701.2	SNV	致病突变	1 +	1
810656	UGDH	c.244G>A	p.Ala82Thr (p.A82T)	NM_001184700.2	SNV	致病突变	1 +	1
810656	UGDH	c.-48G>A	--	NM_001184701.2	SNV	致病突变	1 +	1
810657	UGDH	c.214T>G	p.Ser72Ala (p.S72A)	NM_001184700.2	SNV	致病突变	1 +	1
810657	UGDH	c.-78T>G	--	NM_001184701.2	SNV	致病突变	1 +	1
810658	UGDH	c.193C>T	p.Arg65Ter (p.R65X)	NM_001184700.2	SNV	致病突变	1 +	1
810658	UGDH	c.-99C>T	--	NM_001184701.2	SNV	致病突变	1 +	1

共27个结果, 每页展示20条

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