omia.variant:1757

Genomic description: NC_049237.1:g.[6080653T>A;6080658_6080661delinsCCCGTT]

Coding DNA description: NM_001003124.2:c.[1636_1639delinsAACGGG;1644A>T]

Protein description: NP_001003124.1:p.(C546Nfs*5)

Gene: CLCN1

Phenes where this variant occurs: