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基因: CENPE & 疾病: MCPH13, 共31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
1030481	CENPE	c.5035G>A	p.Glu1679Lys (p.E1679K)	NM_001813.3 M	SNV	未确定	1 +	1
1209804	CENPE	c.5502G>A	p.Thr1834= (p.T1834=)	NM_001813.3 M	SNV	良性突变	1 +	1
157497	CENPE	c.2797G>A	p.Asp933Asn (p.D933N)	NM_001813.3 M	SNV	致病突变	1 +	1
157498	CENPE	c.4063A>G	p.Lys1355Glu (p.K1355E)	NM_001813.3 M	SNV	致病突变	1 +	1
1030481	CENPE	c.4960G>A	p.Glu1654Lys (p.E1654K)	NM_001286734.2	SNV	未确定	1 +	1
1209804	CENPE	c.5427G>A	p.Thr1809= (p.T1809=)	NM_001286734.2	SNV	良性突变	1 +	1
157497	CENPE	c.2722G>A	p.Asp908Asn (p.D908N)	NM_001286734.2	SNV	致病突变	1 +	1
157498	CENPE	c.3988A>G	p.Lys1330Glu (p.K1330E)	NM_001286734.2	SNV	致病突变	1 +	1
932106	CENPE	c.2132-1G>C	--	NM_001813.3 M	SNV	可能致病	1 +	0
1030480	CENPE	c.1722+5G>A	--	NM_001813.3 M	SNV	未确定	1 +	0
1679844	CENPE	c.80C>T	p.Ala27Val (p.A27V)	NM_001813.3 M	SNV	未确定	1 +	0
434697	CENPE	c.304C>T	p.His102Tyr (p.H102Y)	NM_001813.3 M	SNV	未确定	1 +	0
2439895	CENPE	c.3494A>G	p.Asn1165Ser (p.N1165S)	NM_001813.3 M	SNV	未确定	1 +	0
2499543	CENPE	c.2748dupA	--	NM_001813.3 M	Dup	未确定	1 +	0
2499543	CENPE	c.2748dup	p.Leu917fs (p.L917fs)	NM_001813.3 M	Dup	未确定	1 +	0
1209805	CENPE	c.2025G>A	p.Gln675= (p.Q675=)	NM_001813.3 M	SNV	良性突变	1 +	0
1209806	CENPE	c.243T>C	p.Thr81= (p.T81=)	NM_001813.3 M	SNV	良性突变	1 +	0
1805810	CENPE	c.6817G>A	p.Glu2273Lys (p.E2273K)	NM_001813.3 M	SNV	未确定	1 +	0
1209847	CENPE	c.6269C>T	p.Thr2090Met (p.T2090M)	NM_001813.3 M	SNV	良性突变	1 +	0
1032006	CENPE	c.7187G>A	p.Ser2396Asn (p.S2396N)	NM_001813.3 M	SNV	未确定	1 +	0

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