Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: HPCA & Disease: Torsion Dystonia 2, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
190118	HPCA	c.225C>A	p.Asn75Lys (p.N75K)	NM_002143.3 M	SNV	P	2 +	3
190119	HPCA	c.212C>A	p.Thr71Asn (p.T71N)	NM_002143.3 M	SNV	P	2 +	1
190120	HPCA	c.568G>A	p.Ala190Thr (p.A190T)	NM_002143.3 M	SNV	P	2 +	1

3 Results, 20 per Page

Comparison