omia.variant:1231

Genomic description: NC_010447.5:g.70964237_70964238insAAGATAGAGGTTCTTTCCTCTAGACTTGAGGTTCTCCTGGTGTGACAGATGGTTCTTTCCTCT

Coding DNA description: XM_013997927.2:c.124_125insAGAGGAAAGAACCATCTGTCACACCAGGAGAACCTCAAGTCTAGAGGAAAGAACCTCTATCTT

Protein description: XP_013853381.2:p.(F42*)

Gene: KIF21A

Phenes where this variant occurs: