Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: ATP6V1C2 & Disease: DRTA, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1344706	ATP6V1C2	c.503T>C	p.Ile168Thr (p.I168T)	NM_001039362.2 M	SNV	LP	2 +	1
1344706	ATP6V1C2	c.503T>C	p.Ile168Thr (p.I168T)	NM_144583.4	SNV	LP	2 +	1

2 Results, 20 per Page

Comparison