加入收藏

突变查看

便捷的突变搜索和展示工具

检索

检索条件：

Gene: RRM2B & Disease: Mitochondrial Disease, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
132103	RRM2B	c.48G>A	p.Glu16= (p.E16=)	NM_015713.5 M	SNV	P	4 +	6
	RRM2B	c.-5G>A	--	NM_001172477.1	SNV	P	4 +	6
	RRM2B	c.48G>A	p.Glu16= (p.E16=)	NM_001172478.2	SNV	P	4 +	6
30432	RRM2B	c.950del	p.Ser316_Leu317insTer	NM_015713.5 M	Del	P	2 +	3
	RRM2B	c.1166del	p.Ser388_Leu389insTer	NM_001172477.1	Del	P	2 +	3
	RRM2B	c.794del	p.Ser264_Leu265insTer	NM_001172478.2	Del	P	2 +	3

共6个结果, 每页展示20条

1

Comparison

Back to top