omia.variant:1570

Genomic description: NC_006598.3:g.[6367458_6367478del;6367482del;6367485A>C]

Coding DNA description: NM_001003124.2:c.[703T>G;706del;710_730del]

Protein description: NP_001003124.1:p.[(F235V;V236fs)]

Gene: CLCN1

Phenes where this variant occurs: