omia.variant:582

Genomic description: NC_006585.3:g.91747685_91747686insGGACTTCA

Coding DNA description: NM_001002934.2:c.2448_2449insTGAAGTCC

Protein description: NP_001002934.2:p.(K817*)

Gene: PDE6B

Phenes where this variant occurs: