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Gene: MFN2 & Disease: Peripheral Nervous System Disease, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2271	MFN2	c.839G>A	p.Arg280His (p.R280H)	NM_014874.4 M	SNV	P	6 +	28
2271	MFN2	c.839G>A	p.Arg280His (p.R280H)	NM_001127660.2	SNV	P	6 +	28
587402	MFN2	c.334G>A	p.Val112Met (p.V112M)	NM_014874.4 M	SNV	P	3 +	5
587402	MFN2	c.334G>A	p.Val112Met (p.V112M)	NM_001127660.2	SNV	P	3 +	5
1341583	MFN2	c.1717-5C>T	--	NM_014874.4 M	SNV	VUS	1 +	0
1711847	MFN2	c.1327G>C	p.Val443Leu (p.V443L)	NM_014874.4 M	SNV	VUS	2 +	0
1341583	MFN2	c.1717-5C>T	--	NM_001127660.2	SNV	VUS	1 +	0
1711847	MFN2	c.1327G>C	p.Val443Leu (p.V443L)	NM_001127660.2	SNV	VUS	2 +	0

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