Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: SPG7 & Disease: Mitochondrial Disease, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
188276	SPG7	c.1672A>T	p.Lys558Ter (p.K558X)	NM_003119.4 M	SNV	P	3 +	10
188276	SPG7	c.1672A>T	p.Lys558Ter (p.K558X)	NM_001363850.1	SNV	P	3 +	10
212294	SPG7	c.861dup	p.Asn288Ter (p.N288X)	NM_003119.4 M	Dup	P	2 +	5
	SPG7	c.861dup	p.Asn288Ter (p.N288X)	NM_001363850.1	Dup	P	2 +	5
	SPG7	c.861dup	p.Asn288Ter (p.N288X)	NM_199367.3	Dup	P	2 +	5

5 Results, 20 per Page

1

Comparison

Back to top