omia.variant:1364

Genomic description: NC_006598.3:g.6369245_6369246insAGAG

Coding DNA description: NM_001003124.2:c.436_437insCTCT

Protein description: NP_001003124.1:p.(Y146Sfs*49)

Gene: CLCN1

Phenes where this variant occurs: