omia.variant:1138

Genomic description: g.19841331insN[36]

Coding DNA description: c.1793_1794insTTTTTTTTTTTTTTTTTTTTTAGCCCTTGAAATTTT

Protein description: p.(I587Pfs*5)

Gene: RAPGEF6

Phenes where this variant occurs: