Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: VPS51 & Disease: PCH13, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
691588	VPS51	c.2232del	p.Asp745fs (p.D745fs)	NM_013265.4 M	Del	P	1 +	1
691589	VPS51	c.1468C>T	p.Arg490Cys (p.R490C)	NM_013265.4 M	SNV	P	1 +	1
691590	VPS51	c.1421_1423del	p.Phe474Del (p.F474del)	NM_013265.4 M	Del	P	1 +	1
1698446	VPS51	c.419CCA[1]	p.Thr141Del (p.T141del)	NM_013265.4 M	MS	VUS	1 +	1
1698446	VPS51	c.419_421del	--	NM_013265.4 M	MS	VUS	1 +	1
1703249	VPS51	c.1878+42G>A	--	NM_013265.4 M	SNV	VUS	1 +	1

6 Results, 20 per Page

1

Comparison

Back to top