Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: SGSH & Disease: Fundus Dystrophy, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30459	SGSH	c.892T>C	p.Ser298Pro (p.S298P)	NM_000199.5 M	SNV	P	5 +	9
	SGSH	c.892T>C	p.Ser298Pro (p.S298P)	NM_001352921.3	SNV	P	5 +	9
	SGSH	c.892T>C	p.Ser298Pro (p.S298P)	NM_001352922.2	SNV	P	5 +	9
287037	SGSH	c.1272_1282del	p.Tyr424_Arg428delinsTer	NM_000199.5 M	Del	P	3 +	5
	SGSH	c.359_369del	--	NM_001352921.3	Del	P	3 +	5
	SGSH	c.322_332del	--	NM_001352922.2	Del	P	3 +	5

6 Results, 20 per Page

1

Comparison

Back to top